Aggro fruit flies may hold genetic keys to human mental illness – Cosmos

Fruit flies show some links between genetics and behaviour that are surprisingly similar to those in humans.

Susumu Nishinaga / Getty

Scientists are creeping closer to the genetic mechanisms that underpin schizophrenia and bipolar disorder through inducing aggression in fruit flies.

A team led by Liesbeth Zwarts of Belgiums University of Leuven are studying how altered levels of a protein associated with a gene thought to be linked to mental illness affects behaviour.

In humans, mutations of the gene known as PRODH, situated on chromosome 22, has been associated with the development of schizophrenia, bipolar disorder and some other, rarer, neurological conditions. Its influence has been confirmed in mouse studies, but the precise mechanisms by which it works have remained little understood.

To try to throw some light on the subject, Zwarts and her colleagues looked at the role of an almost identical fruit fly gene, known as slgA.

In a previous study, in 2008, the team had established that neutralising slgA induced aggressive behaviour in fruit flies. Manipulating levels and different proteins expressed by the gene (known as isoforms) thus made for a promising avenue into understanding the functions that underpin the sort of aggression that often typifies mental illness in humans.

Reporting in the journal Disease Models and Mechanisms, the scientists reveal that although slgA is found throughout the fruit fly brain, only the slgA found in an area known as the lateral neurons ventral (LNv) produced aggression when manipulated.

The results suggest that particular behaviours maybe linked to protein components in specific cell types, and that disruption to the metabolism of those specific types may be what catalyses abnormal behaviour.

Interestingly, the lateral neurons ventral are also known to play a key role in regulating circadian rhythms, which determine the sleep/wake cycle in flies and humans both.

Disruption to circadian rhythms has previously been identified as a driver for neurological disorders. However, Zwarts and her colleagues established that changing the activity of the slgA gene did not affect the cells circadian regulation.

Thus, the lateral neurons ventral may affect mental health in at least two although separate ways.

The team plans to continue its investigation, using the fruit fly model to assist in determining why current treatments for neuropsychiatric disorders in humans dont always work.

Once we have demonstrated the direct relevance of our Drosophila models for psychiatric disorders, we aim to pursue drug screens, says team member Patrick Callaerts.

In that sense our work may contribute to defining alternative treatment options.

Originally posted here:

Aggro fruit flies may hold genetic keys to human mental illness - Cosmos

Biology Prof: Trump Presidency Is So Traumatic It Will Change Human Genome Forever – Heat Street

A biology professor has claimed that the mass trauma of Donald Trumps presidency will bring about permanent changes to the human genome.

Peter Ward, an academic at the University of Washington, predicted an evolutionary consequence because of the stress Trumps term in the White House is causing the American population.

He asserted that the process by which human genetics could change is analogous to post-traumatic stress disorder in soldiers or the the victims of domestic abuse.

The unconventional view came in a discussion of human capacity to mutate with the science blog (andGawker offshott)Gizmodo.

Ward was one of seven academics asked to bring their expertise to bear on the question of whether and how X-Men-stylesuperhuman mutants could develop.

After speculating about using gene therapy to develop super-soldiers, Ward went on to posit that permanent genetic changes canoccur as a result of horrendous episodes people go through.

He was not asked about Trump, but brought him up as an example, alongside combat trauma and violence at home:

Were finding more and more that, for instance, people who have gone through combat, or women who have been abusedwhen you have these horrendous episodes in life, it causes permanent change, which is then passed on to your kids. These are actual genetic shifts that are taking place within people. Its called epigenetics, and that too can cause huge evolutionary change.

On a larger scale, the amount of stress that Americans are going through now, because of Trumpthere is going to be an evolutionary consequence.

Go here to read the rest:

Biology Prof: Trump Presidency Is So Traumatic It Will Change Human Genome Forever - Heat Street

The Science Behind the Discovery of the Oldest Homo Sapien – Smithsonian

According to the textbooks, all humans living today descended from a population that lived in east Africa around 200,000 years ago. This is based on reliable evidence, including genetic analyses of people from around the globe and fossil finds from Ethiopia of human-like skeletal remains from 195,000165,000 years ago.

Now a large scientific team that I was part of has discovered new fossil bones and stone tools that challenge this view. The new studies,published in Nature, push back the origins of our species by 100,000 years and suggest that early humans likely spanned across most of the African continent at the time.

Across the globe and throughout history, humans have been interested in understanding their originsboth biological and cultural. Archaeological excavations and the artefacts they recover shed light on complex behaviourssuch as tool making, symbolically burying the dead or making art. When it comes to understanding our biological origins, there are two primary sources of evidence: fossil bones and teeth. More recently, ancient genetic material such as DNA is also offering important insights.

The findings come from the Moroccan site ofJebel Irhoud, which has been well known since the 1960s for its human fossils and sophisticated stone tools. However, the interpretation of the Irhoud fossils has long been complicated by persistent uncertainties surrounding their geological age. In 2004, evolutionary anthropologistsJean-Jacques Hublin andAbdelouahed Ben-Ncerbegan a new excavation project there. They recovered stone tools and newHomo sapiensfossils from at least five individualsprimarily pieces of skull, jaw, teeth and some limb bones.

To provide a precise date for these finds, geochronologists on the team used athermoluminescence dating methodon the stone tools found at the site. When ancient tools are buried, radiation begins to accumulate from the surrounding sediments. Whey they are heated, this radiation is removed. We can therefore measure accumulated radiation to determine how long ago the tools were buried. This analysis indicated that the tools were about 315,000 years old, give or take 34,000 years.

Researchers also appliedelectron spin resonance dating, which is a similar technique but in this case the measurements are made on teeth. Using data on the radiation dose, the age of one tooth in one of the human jaws was estimated to be 286,000 years old, with a margin of error of 32,000 years. Taken together, these methods indicate thatHomo Sapiensmodern humanslived in the far northwestern corner of the African continent much earlier than previously known.

But how can one be sure that these fossils belonged to a member of our species rather than some older ancestor? To address this question, the anatomists on the team used high-resolutioncomputed tomography(CAT scans) to produce detailed digital copies of the precious and fragile fossils.

They then used virtual techniques to reconstruct the face, brain case and lower jaw of this groupand applied sophisticated measurement techniques to determine that these fossils possessed modern human-like facial morphology. In this way, they could be distinguished from all other fossil human species known to be in Africa at the time.

The high-resolution scans were also used to analyse hidden structures within the tooth crowns, as well as the size and shape of the tooth roots hidden within the jaws. These analyses, which were the focus of my contribution, revealed a number of dental characteristics that are similar to other early fossil modern humans.

And although more primitive than the teeth of modern humans today, they are indeed clearly different from, for example,Homo heidelbergensisandHomo neanderthalensis. The discovery and scientific analyses confirm the importance of Jebel Irhoud as the oldest site documenting an early stage of the origin of our species.

**********

As a palaeoanthropologist who focuses on the study of fossil bones and teeth, I am often asked why we dont simply address thesequestions of human origins using genetic analyses. There are two main reasons for this. Although incredibly exciting advances have been made in the recovery and analysis of genetic material from fossils that are several hundreds of thousands of years old, it seems that this is only likely to be possible under particular (and unfortunately rare) conditions of burial and fossilisation, such as a low and stable temperature.

That means there are fossils we may never be able to get genetic data from and we must rely on analyses of their morphology, as we do for other very interesting questions related to the earliest periods of human evolutionary history.

Also, understanding the genetic basis of our anatomy only tells us a small part of what it means to be human. Understanding, for example, how behaviour during our lives can alter the external and internal structure of hand bones can help reveal how we used our hands to make tools. Similarly, measuring the chemical composition and the cellular structure of our teeth can tell us what we were eating and our rate of development during childhood. It is these types of factors that help us really understand in what ways you and I are both similar and different to the first members of our species.

And of course, we should not forget that it is the archaeological record that is identifying when we started to make art, adorn our bodies with jewellery, make sophisticated tools and access a diverse range of plant and animal resources. There have been some intriguing suggestions that human species even older thanHomo sapiensmay have displayed some of these amazing behaviours.

More such research will reveal how unique we actually are in the evolutionary history of our lineage. So lets encourage a new generation of young scientists to go in search of new fossils and archaeological discoveries that will finally help us crack the puzzle of human evolution once and for all.

Matthew Skinner, Senior Lecturer in Evolutionary Anthropology, University of Kent

Like this article? SIGN UP for our newsletter

Here is the original post:

The Science Behind the Discovery of the Oldest Homo Sapien - Smithsonian

Crispr May Cure All Genetic DiseaseOne Day – WIRED

vF7_c[$e53~IzdDJfb5qs;+9nHDY32 _U=7|]Gs!;KR$[t]gG.9AHwtWW7*Qwwwi/ {7(Q$xUsUhU+N+hPmj;n^H t'Gt*Xyz(9J{$w<'AUz*O$oD{%?~_i}Q~~%%;><2G2(Q)[v %T%O^eBkK^~LOO G ;'}OO#u]}"O#oJ3`$$>7kq!i~4 X8M+[{^Y='%GmB(r`!Fd7"aIY%u#iv??[hl6;ik[veM:xVj|>LIF)5%wf/(Sw2{m91)Zo+ysY)Gh-Adz>? e_/mmGCtIadok))3V<*zSugun;_|]/d S}*zB"E~<_W3}{zNp{3QrH"huGI=}4^"pF}s "TGqpHkBpL=QnGxW%~ZjyDt[{Cw~'/FmZ>3h0(y<&Vn3Kz-GIW}{M S={?wJ~^#yT?jTmIi^]JnBsWKJt==;<[~P 5?|{WH_.J#~np*?~XymkFK m)hz?l_9lD+d%NP;{{KLG(;k}tMDdc;wD_"w/G{NeL&J .0*Ulw/[H{`o~T?Oz3 ? }Q6Px/m ^kl:}KGQ(7}j="%s!<9M!Y7WX fO[_so2/"TObOM*kj5$+^4D(m2CY|$8yZxp*4;_ #Vm|"@H:{7{U&&K ?,N95dG3zZeg ;3:.qHVsu,._wk5[553{k`;H'::/xb=RzVOHo#l~xF+<=.}>b-)u;#!6Mreb`oron&4voy/566E31qrO4zI5HAf Va^l}'.|{Eprnzc3$:8WuM5V}W(-wFE}jns>N-/)F>j+4!jWwFkD`wh%p"xKW"`X yrj[*9`r256bt?3%q78(<0cq1;5reM?n}>m;lI+a94.zy28jI~y9JxB%.ENBg"qXnWex1gPOF$cB!021@+dO=}Fam|AZwic@>$B%@z0U&vhVKk3*x-%y+qZA>ud(!f%6#r7su K9`O*K,:CF1 {a*w3#_QG~%n@k- RNVdl3.O _x_I,hJdCtd?QYDLbv^6'KRM-;5|}C7jc}b#.kz5SECZ>gHCfMM<}MC2ApgB(Og :)E*5]sD'~D@ ">=JE=X}NtP8_"sYBp)8`x`k4'[cC28Oui-'||1^.y)$t R2Unbr(hg-OrF:(GiJm G24zCs)oe7$icG%2ZB8Y"qcoX-t5I1Wu%F-]y jZK+Oh2^G^8b Tkf/I UkqFwloR4X&%v`LiVcc%:8Q I'I7GB'!/^u,Fo#v~"8yF ~:TTy2q-Hg}:t|'#}vo"n2qh=A[qRJ#% )((84YEY"" Ngek$OYMVimQ; &%DboH) rrocE{r{4uM'zA%HEq:`Nzy*y`hKlB/aB~r 1RWiMYL$|::/8AI%9Tm2>"qpF>kXgS`=x.gx(Tk:^!b:<[MdGae.?3 PzZXc5&|rki@h] @K1vw!0U$^8,DwOfr89[e8^_%z9=]%'9gn)>:O`6t\[NEd3~K<+zn5f}!'DC>"}T:s9bGN%2t;H`: -%}[2Tz>V.gGdP#x%ZwGqh3M0Xyg&GA *U:(zKhD|i9b_ZvIn^A#=bZ6|@+Xd0 {HCl.I=m*b}a6eLdqDloNW 2bkL& RT.[>9S]qsP H-x7OEq?X&.w%)Q't.2QJlTT@)Xs7nm#S4/[c5T]6EN3FAm@EF7(d6bB?(3}D!/"dmm4Xu>&{% /n~Msy46 T@N1QB[+p~H~:oSrMeKKLE D=WUcAc msUi! co t-pT*y}q$DTJn)h`8)wz8h40y?8}Z:8ij#wi?)u= v%e_A+?((TPYRt@$R^<*>@kq}qM&d,4 g1B^d`'[afl](;]!a#|kmJ[fXm_4iAjD)aqd8anaQquM}%NK)Vo`LZZXbjjA8'Y Ub*q,x f<;cqsp1A_j-y})EQqA4*C,D}$.17(e7^G XRuo6}oOdHGNz$Ww ['LJ:YK1ih]~kw6p<'FV?4uWO}1}j&g2S*?39{2LkL1whH.AN$.n?DleR6vory_.5X7M#TL8ArCiGHF|$L &>dBrue67s 4{8UT2D2fuU+ U3?'&7G>YZVg-/98-*m?&?Mc7Ud>1W7Iy$ co3g{,]ppeCyq%9z1MKt T+ 3Qy zH8BTv/FsEN6G @kra[,pwG_ sV9.U(qujg2UK>7:O3Yo|%_ ~s< zgz/2*ieqHu7jRg$e&&bY}5@H.bP*qI$;sRLwT)Vey[VX`i29e@ekT2ds0Gz4e ^Hg$AKgtb{N!#b^cM{0hQl}%pn]UK.L 9zsp4Th{d`LP44 @9IfsE){_z,LP>ajP3uLOQ)dUId2}uF+,MTksU:+LCf|0e&+&8eK>)A+msef):wEF+(`M2M] l&4`C ^n)]K^7%EA%.JI&`)Y,8Af"P(lqI#)h{|'dz8#} GwDf+dq~c~ 1&f~7SvHJNH b4WCjztQ7}PU%:w|ZVtnMvM/fMe?h ~2=S"QN~w`7?A=(UYXo5K :6PfyS1m@53v/JyI]>#.I~:"Icw?S5GSt`oJFPrZ$|KEhW;z~mD.E6GZst6jM`vpC>uSCv8& %ws? M; <:L7&@d6d^I&oc^yFptFmrg>"ft7N8/h$ ~ KV%!sI$4sQ|jt*9]adQz>zO3=xb_f65 tb>FOK?,Cx(;EL# '~CJA?$8SS814WAp_P3cSHt3N9*TO{&mPBW(Zxy #~?,s/$TQ{pgy^DQ?I8WwkwG#6G%L}3R[q%,!5%d 3X8:''^=r^M&y vp%- r; `b4p8_N 7Y }X0u10y ,$aEhf/P=hC.)tG adNc[=A6>Or$~:0T0K!I/{F4hMZhXN&Gl,Lf4% <31B*Z"6b-@H1,uMv41-Bqs3*E oTX8x+@MMrWJ> ^.X=lDS_+BhNdkpAE$s8]BMVOJWb`e|ck}dAY.e{pm,6ay6b"2YLA_dcw+mVW0Wb|B^&h;YImyB|V#S+ ~ M8rXUrQu:p&BN 3mn6_LS#W(meuJ5f' Xt;^.I7LW|zgxpgJ@?GycO 6*74^}p`noRJ_Z

<'i4PG_k1&' &[( { ss|0um bx]_LA@npHDS#2$x0*V Gi:9B1v:]u4Z9:&C B E -EzgnECoh'?rx!`RY~ksOdwMGyAUB2 ^#1rid65`,_/*Ah_qqBF$~R 9DKPR8mlvu(Mm"mE9C@Be<0e3^_HQ& ;v 1-Df-4&OyrZ qXK L/~G8$m/G)AiBR8ZC^yoCXmV,iiw~:m!Stbg4`q:T Y, k325pf7$aLzEV9JyJE$# {$PY6O*Il{(NXL.Ww"b,,vzFJTl|]0#u,.k.-[JS09bnkoOL}h"h~f4o&r 3gVC"BKeD*i.Zg!Sg}qJ.}m$m$'D|':ouq''u.kz0y# p/Ls ;A>@CI+p!F(.[3Ch}mT6mlSWQ s(E6q.OR=0jzC]8]9t@F|yEu`W-Z(-aYf6,fG=vv=wb+x@BUG4CfDA$^B*0)+~O[C0|H duGi De?' ~KH!Bs.T (a{ip#~<@N0*O0u[zgWmn^d=U *k8?rO&p&NC#$-5QK.pu~b#(ZBzO%XT*$6I>,$Ba[Dgg0lfMw@VC{o0_Z#?}"9mv#2+9XD8N#mRFJrlj]z'HrE[HxcD27n?8{@8!4F6~8"'TBX]BLcEm8bHH=5O=y: D Ak0j@kh$I(AU0uAQ1R IiR8qmiSR1v0`V@hN"XY8GO_:DqvO&N rVgD*l,PI1uW@jHL3;@M+Q4HXzR8@Oy_Z*P7C1&^OSB!S FExbb*P)L`JjZHHC "TL3xM#S.ORg^f:c^xl>{|L&224!, gO:q _j`RkCc`aTs,&X*F,'>b,e3IqaN8RL>K;Cr`,J PgZJdH0nQGj([ B"$N2"V>76*iiuiT3l/dxE=y~94+"G3Q,e1hEpS@(w-LRw< g|Y% 74En)~y EfE+1b.}?_oyO^`Ux}s`jbw,ZoZK'[<`zP&yv3)$(&ap.qec }}8jqy>1A+W40pO4~'q^*nTv}wl27?0G,K0vMhmu^}C@vcag+H1> LxI?Pw)*oIJ>saFmsh >I`tAStK@LQ!J{sA@82Sr*`nQfi|0VG-a^)uiz^#y/J Cc=: AYPO i,"%=`+Y #uhtmi*}& X>$$IG*4MxIK-#Rt{'Q)eLRO163bh;vFJ2( j6/{D$T]1qMX pv$gbR" GA:7 9h`AJ`/%`HH5(#Z {t ?j* h6=%"-+rjr>9=I& lk?{5:@F:g]}8r/=J0 X kc4N:OP4L6RmHrLU43,'PfJL _<7Ukb:{yY]01~1-qa>}iJ%I4riis2JUdi6)B{NM/{: kRAD>1pQpEDcK,4b&,I&}4q4Z1D;8#sg0`n.2GZnK'V^iH~,XkUs$0L]m|%A

Read this article:

Crispr May Cure All Genetic DiseaseOne Day - WIRED

Lab-grown organoids hold promise for patient treatments – Medical Xpress

June 7, 2017 by Claire Conway Zev Gartner is growing breast organoids with precise ratios of normal and tumor cells (shown at left) to understand how cell-cell interactions contribute to tumor growth. Credit: Photo by Elisabeth Fall, Cell Image by Gartner Lab

Ophir Klein is growing teeth, which is just slightly less odd than what Jeffrey Bush is growing tissues that make up the face. Jason Pomerantz is growing muscle; Sarah Knox is growing salivary glands; and Edward Hsiao is printing 3-D bone using a machine that looks about as complex as a clock radio.

Together, these members of the UC San Francisco faculty are cultivating organs of the craniofacial complex the skull and face which too often go terribly wrong during fetal development. Deformities of these bones or soft tissues, the most common of birth defects, can cut life short by blocking the airway or circulation. Or they can disfigure a face so profoundly that a child struggles to see, hear, or talk. Perhaps most painful of all, such deformities render children physically other, potentially leading to a lifetime of corrective surgeries and social isolation.

As director of the UCSF Program in Craniofacial Biology, Klein orchestrates a multisite research endeavor to translate basic science findings in tissue regeneration into improved treatments for these kids. Using stem cells from patients with craniofacial deformities, Klein, Bush, Pomerantz, Knox, Hsiao, and their colleagues are growing tiny functioning segments of organs, called organoids, to figure out exactly when and how in fetal development such design flaws occur.

They are among scientists across UCSF who are cultivating cellular systems such as miniature brains and breasts from patient cells. They serve as dioramas of disease models derived from human cells either displacing or complementing the mouse models that have served science well, though inexactly, for many years. The effort is one of the most obvious and viable payoffs to date from stem cell science. With these organoids, physicians and scientists can not only trace the pathways of normal and abnormal development, but also test drugs and other treatments for their effectiveness in humans. Organoids are also one tiny step toward the ultimate goal of generating complete organs, as a way to circumvent rejection issues and save the lives of those who now die waiting for transplants.

As the reservoirs of human development, stem cells take it upon themselves to tirelessly renew and differentiate into the myriad cell types required to build out a body from an embryo. In creating an organoid, typical construction metaphors do not apply. There are no building blocks to nail, stack, or solder and no job-site supervisor barking orders. "That's not how biology works," says Zev Gartner, PhD, an associate professor of pharmaceutical chemistry.

"It is a self-organizing process," he explains, a process that starts in the womb with embryonic stem cells (ESCs) or, in the case of organoids, induced pluripotent stem cells (iPSCs). iPSCs are mature cells that are stripped back to their earliest stage of development using a process devised by UCSF Professor of Anatomy Shinya Yamanaka, MD, PhD, who won a Nobel Prize for discovering the process. To make organoids, iPSCs are put through a series of solutions, then added to a gel that mimics the squishy 3-D cellular matrix of the embryo. The gel provides the right conditions for them to get to work.

"Take an organ like the lung. Its basic functional units are a tube and a sac, and outside that sac are capillaries that allow gas exchange. Hundreds of millions of tubes and sacs make a lung," explains Gartner. "You can make the little sacs and the tubes in a dish as an organoid model. But we don't know how to drive the self-organization of those units into much more complex, elaborate, highly ramified structures." The fundamental limitation of organoids is that they lack the vasculature that brings nutrient-laden blood to fuel the evolution of the larger structure.

Gartner notes that people who work with stem cells tend to focus on either regenerative medicine or disease modeling. Those interested in disease make models of tissues so that they can understand how diseases work, while those interested in regenerative medicine try to make models of healthy tissue that could be transplanted. Gartner straddles both camps. He grows breast organoids. "The mammary gland is great because we can simultaneously think about these two phenomena as two sides of the same coin," he says. "One is regenerative medicine through self-organization, and the other is understanding the progression of breast cancer through a breakdown in self-organization."

So there's potentially a triple payoff in stem cell science: By deducing how a breast forms itself, Gartner might figure out how to grow the entire organ. By tracing how cancer throws a wrench in the works, he may be able to target ways to stop that process. And by growing a human organ in a dish, he avoids making cross-species assumptions or putting animals or humans at risk in testing potential drugs to cure breast cancer, greatly accelerating the push toward a cure.

Regenerate

On Klein's team, Jeffrey Bush, PhD, an assistant professor of cell and tissue biology, looks at organoids through the lens of disease.

The video will load shortly

The organoids he grows model craniofrontonasal syndrome a birth defect that is caused by a mutation in a single gene and that dramatically impacts the shape of the face and head. He knows from studies reproducing craniofrontonasal syndrome in mice that the first place something goes wrong is in a cell type called the neuroectoderm. To create an organoid to study this, he obtained skin cells from Pomerantz, an associate professor of surgery, who has patients with the syndrome who were willing to donate tissue samples. Such collaborations between basic scientists and clinicians are key to bringing research out of the lab and into patient care.

"We studied this simple system to see how this mutation affected the organization of these cells," says Bush. His group has filmed cells as they rush about to self-organize when they're mixed together. In those films, he explains, "you can see that the mutated cells, which are dyed red, segregate from the normal cells, which are green they are like oil and water." In other words, the mutated cells completely disrupt the behavior of all the cells. By contrast, in the films of cells without the mutation, all the cells circulate easily among one another, like fish in an aquarium. This understanding has allowed Bush to begin to think about a drug that blocks this separation. He has several promising candidates that his team will test in pregnant mice. "Right now," he says, "there isn't a single drug that we can use for any kind of structural birth defects. If we could show that a medication blocks the effects of this mutation, it would serve as proof of principle that something besides surgery can be done. But we would have to know that it was safe for mother and child and that we could catch it early enough."

Reconstruct

Jason Pomerantz, MD, a plastic surgeon, falls into the regeneration camp. His clinical work is typified by a recent eight-hour operation on a 17-year-old boy with Crouzon syndrome, a severely disfiguring condition affecting every organ in the craniofacial structure muscle, bone, and skin. "My patient is excited for the outcome, but not about the process," says Pomerantz, surgical director of the UCSF Craniofacial Center. For three months, the patient will wear a large metal frame on his head with wires that will pull the bones in his face forward. Prior to the surgery, the boy's face was nearly concave, collapsed inward at the nose.

Yet bone is not all Pomerantz needs to work with to restructure a face. The subtle bends, creases, and curves of expression that make a face one's own are the work of tiny muscles. "Right now we can move a big muscle say, from the thigh to the face so that people can smile," he says. "But we can't reconstruct the fine ones that enable people to move their eyebrows up or move the eyeballs around. That requires little muscles. This is where we can make headway with stem cell biology.

"We have actually made a humanized organ in an animal," he continues, pointing to a picture of a mouse on his wall. Pomerantz is now considering incubating small human muscles in animals for use in his patients' faces. In a recent project, he inserted stem cells from human muscles into a mouse whose own muscle stem cells had been incapacitated. He then perturbed the muscle to stimulate regeneration. As the muscle healed, the cells created new muscle tissue, which the mouse's nerves innervated to make a functioning muscle. It's exactly the size of the muscles Pomerantz needs for full articulation of expression and function in a human face or hand.

Create

Muscles are part of a vast and intricate system strewn throughout the body. Teeth, on the other hand, are islands unto themselves. "Teeth intrigue me from a regeneration perspective," says Ophir Klein, MD, PhD, chair of the Division of Craniofacial Anomalies, the Hillblom Professor of Craniofacial Anomalies, the Epstein Professor of Human Genetics, and a resident alumnus. "They are discrete organs all the parts are there." More intriguing still is the fact that many rodents have the ability to grow their front teeth continuously. Elephants and walruses also have ever-growing tusks, and even some primates lemurs can regrow their teeth.

A tooth can be regenerated in parts. Stem cells can be used to grow the root, and then a crown can be added to complete the tooth. To generate a whole organ at once, Klein's colleagues are planning to partner with bioengineers who can produce a biocompatible material that could serve as a framing device to jump-start the creation of dentin, one of the hard components of a tooth. If they start with the right cells, then the scaffolding will give the cells the shape information they need to create the right design. But even that isn't Klein's endgame. "In my lab, we're interested in figuring out why humans can't regrow teeth," he says. "In studying species that can, we hope to unlock the regenerative potential in our own cells that might be turned off."

Klein's work to generate teeth is inspired by his patients with ectodermal dysplasia, a congenital disorder characterized by lack of sweat glands, hair, or teeth. Being able to generate the roots of teeth would be remarkable for these patients, since the rest can be done with a crown. Right now, they must be fitted with dentures.

Klein is also taking another tack to help these patients. "We completed a clinical trial of a drug that basically goosed up the development of the organs when they weren't forming properly," he says. The drug a protein developed by Swiss collaborators of Klein's, based on studies of embryonic mice, who develop these organs in early- to mid-gestation was given to infants with the disorder right after birth. The trial was unsuccessful. Now, scientists in Germany are running a trial of the same drug, giving it instead to mothers carrying babies with this genetic disorder. The scientists will try to gauge what the best timing is for delivering the drug.

"What's great about this drug is that it doesn't seem to have any effects on any other organs besides teeth, hair, and sweat glands," says Klein. "Drugs for other conditions are far riskier, because they affect pathways that are important in the development of many organs."

Maintain

Sarah Knox, PhD, an assistant professor of cell and tissue biology, is using stem cells to figure out how to regenerate salivary glands compromised by radiation treatments for head and neck cancers or by craniofacial deformities. Her focus is on how the environment contributes to the activation and maintenance of the gland. The salivary gland, like all organs, is continuously replenishing the supply of cells and tissues it needs to function. Knox's research shows that the gland takes directional cues from nearby nerve cells not only to remain functional, but also to continuously replace itself. Her organoids are made of cells from a patient and nerve cells (ganglia) from a fetal mouse. "We are trying to explore the relationship between the stem cells and the nerves," she says. "How do the nerves know the tissue is there? How do the nerves provide instruction and feedback? Individual cells die off and new cells have to replace them. Organoids are giving us insight as to where those new cells are coming from and how we keep repopulating [them] all our lives."

As head of the UCSF Program in Craniofacial Biology which is based in the School of Dentistry and the Division of Genetics in the School of Medicine Klein stands at one of science's most compelling crossroads: regenerative medicine and genetics. Far in the future, both fields have potential that seem like science fiction today. We live in a world where people die waiting for organ transplants. What if we could pull these organoids from their petri dish and supply them with the fuel they need to become full-blown organs? Such a feat would necessitate either a host embryo perhaps from a pig, because pigs have organs the size of human organs or some other biological foundation. Some scientists are hoping to jump-start organ development with "scaffolding," or cells engineered to speed the developmental process. Others are zeroing in on the genome, particularly in kids with craniofacial anomalies caused by just one mutation, like craniofrontonasal syndrome; for example, a tool called CRISPR could allow scientists to splice that gene out and replace it with a normal gene. But the tool has yet to be used in humans, let alone a human fetus.

Ethical questions pepper either route. At their best, stem cells regenerate tissues; at their worst, they go rogue and grow into a tumor. "Yet with gene editing tools like CRISPR, you literally have the potential to change the species," says Klein. And in both scenarios, the cells can act with unforeseen off-target effects. Klein and his colleagues are in continual discussion about the repercussions of their work with the director of UCSF Bioethics, Barbara Koenig, RN, PhD '88. "Gene therapy is an example of an exciting new treatment that cured one serious pediatric illness severe combined immunodeficiency syndrome (SCID) but the genes unwittingly led to the development of leukemia," explains Koenig. "Genetic and stem cell interventions must be painstakingly studied before application. And, once they are ready, who will regulate them? There are many questions yet to be answered. The challenges are most extreme when we talk about modifying an egg or sperm cell, where the changes are passed on to the next generation."

So Klein and his colleagues proceed with caution, curiosity, and awe. "The next decade will be an incredibly exciting time," says Klein. "With continual advances in human genetics and developmental and cell biology, we hope to be able to make drugs and use genetic tools to appreciably change the lives of our patients."

The Bone Printer

Bone grows like a runaway train in Edward Hsiao's patients with fibrodysplasia ossificans progressiva (FOP). The slightest bump or injury can set off a spurt of bone growth that can fuse their vertebrae, lock their joints, or even freeze up their rib cages, leaving them unable to breathe.

No one, to date, has successfully engineered bone. Hsiao, MD, PhD, is hoping to spark the process with the help of a 3-D printer from Organovo, a firm that specializes in bioprinting technology. From iPSCs, he can make many of the essential ingredients of bone, including mesenchymal stem cells, endothelial cells, and macrophages. "We are putting cells into the equivalent of an ink. Then we will print the structures with the ink, let the ink dissolve, and leave the cells," explains Hsiao. "The hope is that the cells can then recapitulate the normal developmental process."

If the approach is successful, Hsiao hopes to use the resulting models to test drugs and other treatments to halt or prevent bone deformities. Down the line, his progress also stands to transform bone and joint replacements. Through his work with FOP, he's uncovered one mechanism that drives rapid bone growth. "In these patients, we know that mature bone formation can happen in as quickly as two weeks, so it is possible to grow bone in an adult. We need to understand how to modulate that," says Hsiao. "Someday, my dream would be to be able to identify the cells we need, give someone a drug that induces the right genes and recruits the right cells to the correct site, and have the cells rebuild the joint from scratch."

Explore further: New study makes strides towards generating lung tissue

Yale scientists produced increased grooming behavior in mice that may model tics in Tourette syndrome and discovered these behaviors vanish when histaminea neurotransmitter most commonly associated with allergiesis ...

Some bodily activities, sleeping, for instance, mostly occur once every 24 hours; they follow a circadian rhythm. Other bodily functions, such as body temperature, cognitive performance and blood pressure, present an additional ...

Myelomeningocele is a severe congenital defect in which the backbone and spinal canal do not close before birth, putting those affected at risk of lifelong neurological problems. In a preclinical study published June 6th ...

Delivering drugs to the brain is no easy task. The blood-brain barrier -a protective sheath of tissue that shields the brain from harmful chemicals and invaders - cannot be penetrated by most therapeutics that are injected ...

Exactly when does old age begin? Which health markers best predict who will live a long and healthy life versus a life spent in poor health?

A vaccine developed at The Scripps Research Institute (TSRI) to block the "high" of heroin has proven effective in non-human primates. This is the first vaccine against an opioid to pass this stage of preclinical testing.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Go here to see the original:

Lab-grown organoids hold promise for patient treatments - Medical Xpress

A Radical Proposal For Preventing Rare Genetic Diseases – WIRED

vF(z6gn+|kg;N8Jv p-n~jI.72~/fLke2c_xuW;=y~V?U/j{|/"w n[x l:J%y{%'P:k W$e NlX!Bv }^zw#J^[/_ in`>$)$rQ ?^3[&J[^sfaX^L2G;r#s;r5NuKc]x_Qb:[K>.c`x d.R"HS!/6v760~>|8CKz{*,"@`l~hjh ,I+o!++'+^K,%"p%QszqUEw(fqyNR8#SrwPVxFn;27al;`;u>=p_z1<.zRH%:)Nq;|o> Gam;;sUm1OxY#~2>?kv~Sv<>w>lJcZSGQ0'P`_ U]GF+9}XZs=Ft<9Cw P +y8{?E@,&Q?;;y{Vvms 6vj(;|F] :4hh C-".u 4:OXC1Oe?#wqHF/A7MI;.M@e>@BS,z;|H@[%anHgru+ztv{ )Xqv j;N{RCI~0ra$t ]/+E~ S)3(~#"mE}_hf/fr9iK?1P]#9 ezB=.|`E#g=Pbv?XaSgyD!f@(^xTQW*^zn2mJxo B;j ^^JB% ,b?9Q9@'N0A}^qj*lfC}`j|)W8~x;[Ls~>#6FQA*{uZynx=W 6nciB/(L,va50odT~Kfr(k@e{)%8K4 D3$x`#$X7A.N9n.$B7aAx FnS+_33'0_nZm.QQs#y(O"*/WkF&Z|Xa| `;#h'fs0a.kdo9RgAlUA4xT3 <#@mjkjbYfn ZV_UQ-C70/>^`5 G=g+$OKS];go1wfCk,sF[[[3q7*SJIDVU4I:P$-v9^g4 sMBo6n:K/zVPNv4>b^]A*l+~22Yl?&#?hFAU` w@,O7LPv*{FU,;BP4G0K/{?/~>vOWW__;n^?;6Y+ S}J?#R2XbN %4wmlbW=mLnn*N'W4N982S;G`PmMxv5 *jL+4%$D>|fT JDr%(B+0NRA,NOt_><|%*Nn`o24?},3v o)O/>m;S* 6>x+W-%zs8yf#D-Nq4_T4n4;6ta(#w'jt~wv AQ CW%/a7}xy+zRXuw2KY #P`k+ZTe(!xg98v_lFhMEJ%.a0Gq0>:i3-_3._"DjhDD|~B:`^hLp^t re6Y_r?zxwruw#h -{}(dUS )wxFb[K HlwE&>jlCJQ^Q^ G@JRhgxa_CZZ_yt?*3%IAjyjcX8h:AUu7;Po#"5Fx-j8i[S*)f|8UM"4~dnY@-k{>Ae@/@ssHhCJ1sk ,Aic:{x7a|F%M JBFjV yj>7$!:j D~w=0 yy;0*99:)]XBbdZz'*aks =?m$Cb=/B6lNUl)bthr5/gp]yP4qxSuxHKk@Y#weI8b i^lnxehnCV=?HVa?d];"[) F q (; O1Opef`-Jg,3J#}eK=zxh<1abwX)tae=_YH*R`=g"k@g@De8.0gY`GOr<_OS9W-^ fPogcdSIGAT-YrbM @K2d@snU o_YX94{qs/!IeYKNbcT tufMB!6f& gVq2],U93XY p$bcEG)Z-2XA3PmH4stn[:m"QB"H:$8}t'Q"@QRU`CQxD{ng`z$BMLN! IQS/l?Szd ;%=:0u5)3qx4Q0$)YNf>^$FF[k=_]d+._sW^X NV5=[9eo!')#Z0N>.=4b^WGvX_CHR4y_>nbK 9<"i@R-" e"':3Pt2zF!;v1phQYybs,R'g_'nQ9=&8QW}v Cs=p1g<1 -c0qKdxa#` ~5Na.TXlC'1(6v%Je39>$28`VZ%+[s^_{>3|j{#%#S#AT>Jg)]3f|I:D=I'Jo[N|=#pbvWuq(G.{zd| (#[Cp1G sjnkrtD(9P Gb#b4y: =}[hl1`'TcS^]Im j]S?1,y"s690+0EQF m/AOPm>%e$- ~)i5?QKh, D~k` !AJm(,B c_LbJ^ AY_ShkUU%FUF'`Of>XiB61ZH3y>xN rwpT|d>z @aG 6Z~3t7004^Ov?wYb1~m$7-l MTr~[Zq%{uX }+[SBj~x ;.7L"h(kj)Pgh|LeF2YxyP]^`[8x@ a.?d(pyoZnyzcRMzS`OnU`sO8tIC^djd^ n%[xO#o N6IIpq:IXBr FVr/T-Eq"vdt/Zt!}=Z>f?8wjJ&AxIVa/hTsE A:aDPAH: pHXQ:"XnmYm{~U|CGgnMq5D##[0Kn{/S:Vyy_p+Y-owZ{HvYP)ZWIdXwFy EIpNw,_/F[9mL G$0it`5&/UT%#I%]]D3".m'Jak3}6q:Fa7s* |*:-qC2-KQX]jF0F=Rt<,S|=J+l8R9=TD<+x-W2i]'raUfErT?S@V TO~'De85)p:R L 2j.Ol*3Z`7cU)B%B3aAK3B W5vNi9vx R z G-j"k{L i8kX=nFF)Jb`62,zEW4i{zkkp[CSc==S_M_l`1tm0fb4^90OX+J uPk)sEZuTLQ%MQu,QPkkK@j-g`l:ZVuoYcm-V[zZjFSC+&fUb-x;;%6/7 S_m4Z5A&24a#+Z{1xZnj-Sc1fMesxC_hlt!k2QXb6K4%]9KGeja>;o`c@^bg@b]lH*RKw}>J->zR.*P H a=("laSeEL5Gj n3i.H_Dq]2{k8bv?'1G]l"I17?.Ds^|P3)!aC3,-B|2ja w9zOyXyB4t_!kVoSH|5b3S7g]y"co^taw +tc&fS14+#%yXBLy3V /Y;2>F0k}T%^(FnZ Kv '{+^Lc(0jHAZx/HpUJBHDZ0 Jxx!{hg'(v2+/! eJt2/}vZf{

See original here:

A Radical Proposal For Preventing Rare Genetic Diseases - WIRED

Hillsboro Native Earns Honors At Vanderbilt – thejournal-news.net

Hillsboro native Dr. Nancy J. Cox was honored this spring as the first recipient of the Richard M. Caprioli Research Award. Dr. Cox is currently the director of the Vanderbilt Genetics Institute in Nashville, TN.

The daughter of the late Gene and Helen Cox, she is a 1974 graduate of Hillsboro High School and was selected as the second Hillsboro Education Foundation Distinguished Alumni Award recipient in 2002.

Dr. Cox earned her bachelor of science degree in biology from the University of Notre Dame in 1978 and her doctorate in human genetics from Yale University in 1982.

She completed a postdoctoral fellowship in genetic epidemiology at Washington University and was a research associate in human genetics at the University of Pennsylvania.

In 1987, she was hired at the University of Chicago. She was appointed full professor in the departments of medicine and human genetics in 2004 and chief of the section of genetic medicine the following year.

In 2012, she was named a University of Chicago Pritzker Scholar. In 2015, Dr. Cox was hired at Vanderbilt University School of Medicine as the Mary Phillips Edmonds Gray Professor of Genetics, founding director of the Vanderbilt Genetics Institute and director of the Division of Genetic Medicine in the Department of Medicine. She is a fellow of the American Association for the Advancement of Science

Throughout her career as a quantitative geneticist, Dr. Cox has sought to identify and characterize the genetic component to common human diseases and clinical phenotypes like pharmacogenomics traits (how genes affect drug response).

Her work has advanced methods for analyzing genetic and genomic data from a wide range of complex traits and diseases, including breast cancer, diabetes, autism, schizophrenia, bipolar disorder, Tourette syndrome, obsessive-compulsive disorder, stuttering and speech and language impairment.

Through the national Genotype Tissue Expression (GTEx) project, Dr. Cox also contributed to the development of genome predictors of the expression of genes, and she also has investigated the genetics of cardiometabolic phenotypes such as lipids, diabetes and cardiovascular disease.

With colleagues at the University of Michigan, Dr. Cox is generating content for the Accelerating Medicine Partnership between the National Institutes of Health (NIH), U.S. Food and Drug Administration, biopharmaceutical companies and non-profit organizations. The goal of the partnership is to identify and validate promising biological targets, increase the number of new diagnostics and therapies for patients, and reduce the cost and time it takes to develop them.

Dr. Cox is co-principal investigator of an analytic center within the Centers for Common Disease Genomics, another NIH initiative that is using genome sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. A major resource for the Cox lab is Vanderbilts massive biobank, BioVU, which contains DNA samples from more than 230,000 individuals that are linked to de-identified electronic health records.

Dr. Cox is the author or co-author of more than 300 peer-reviewed scientific articles. She is former editor-in-chief of the journal Genetic Epidemiology, and is the current president of the American Society of Human Genetics.

For developing new methods that have aided researchers worldwide in identifying and characterizing of the genetic and genomic underpinnings of diseases and complex traits, Dr. Cox is the first recipient of the inaugural Richard M. Caprioli Research Award.

Dr. Cox and her husband, Dr. Paul Epstein live in Nashville, TN, and have two grown daughters, Bonnie Epstein and Carrie Epstein.

See the original post here:

Hillsboro Native Earns Honors At Vanderbilt - thejournal-news.net

Fully sequenced deer genome made publicly available – Phys.Org

June 5, 2017

Researchers at Baylor College of Medicine have played a leading role in sequencing the whole genome of the common white-tailed deer, which has recently been made public by the National Center for Biotechnology Information.

The deer genome has the potential to provide insights into bone behavior, more specifically how deer are able to regenerate and repair bone after it is lost or damaged.

"We are hoping that by understanding the deer genome in greater detail, we will be able to better consider how to approach and treat bone-related illnesses and disease, such as osteoporosis," said Dr. Brendan Lee, chair of the Department of Molecular and Human Genetics at Baylor. "For example, antler growth each season is an example of the fastest and largest regenerating organ in nature."

By allowing the deer genome to be publicly accessible to researchers around the world, the NCBI is fostering collaboration among institutions when faced with solving complex cases or unidentified genetic conditions.

"Sharing data is incredibly important in developing therapies for bone disease," added Lee, who also holds the Robert and Janice McNair Endowed Chair and Professor in Molecular and Human Genetics.

Explore further: Notch1 and osteoblasts play role in bone cancer initiation

(Medical Xpress)A new mouse model of osteogenic sarcoma, a potentially deadly form of bone cancer, shows that high levels of Notch1, a gene that helps determine cell fate, can drive osteoblasts (cells that normally lead ...

Endangered deer in the Florida Keys are no longer receiving anti-parasite medication to protect against flesh-eating screwworms.

On first glance, Yakushima Island in Japan and Dorchester County, Maryland, wouldn't appear to have a lot in common, but a closer ecological look reveals one stark similarity: both are home to populations of sika deer.

A team of researchers in Seoul, Korea have reported finding evidence that deer antlers - unique in that they regenerate annually - contain multipotent stem cells that could be useful for tissue regeneration in veterinary ...

With the ability to use next generation sequencing technology, researchers have a broadened understanding of the association of genetic changes and disease causation to a much greater resolution, driving new discoveries, ...

A new study shows that deer species capable of building and shedding their antlers already existed about 20 to 15 million years ago, in the Miocene. The finding sheds new light on the evolution of deer.

The DNA vital to the life of a cell is packaged in chromosomes, and a variety of checkpoints, repair mechanisms, and other cellular safeguards exist to maintain the integrity of the chromosomes during cell growth and division. ...

Scientists are now confident animal life on solid ground started with a few short bursts of marine creatures making the leap from the oceans.

Scientists have watched a cell's genetic machinery in the first stages of 'reading' genes, giving a potential way to stop the process in bacteria.

As the United Nations Oceans Conference convenes in New York, a new paper calls on marine scientists to focus on social issues such as human rights violations in the seafood industry.

Passing skills down through the generations, previously thought to be unique to humanity, has been discovered in chimpanzees.

The flightless cormorant is one of a diverse array of animals that live on the Galapagos Islands, which piqued Charles Darwin's scientific curiosity in the 1830s. He hypothesized that altered evolutionary pressures may have ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Read more from the original source:

Fully sequenced deer genome made publicly available - Phys.Org

Human Genetics Market Analysis and Global Forecast to 2024 … – Press Release Rocket

Human Genetics Market Research Report Global Forecast to 2024

Human genetic market, by instruments (Accessories, Device), by end-user (Hospital, Clinic, Research center), by method (Prenatal, Molecular, cytogenetic, presymptomatic), by application (Forensic science institute) Global Forecast 2024

Human Genetics Market:

Genetics is the study of genes, their functions and their effects. Among the various types of genetics such as molecular genetics, developmental genetics, population genetics and quantitative genetics, human genetics is the study that deals with the inheritance occurs in human beings. It encompasses a variety of overlapping fields such as classical genetics, cytogenetic, molecular genetics, genomics and many more.

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. It can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component.

Request a Sample Copy @ https://www.marketresearchfuture.com/sample_request/714

Key Players of Human Genetics Market:

Market Segmentation:

Major Human Genetics Market by Methods: Cytogenetic, Molecular, Presymptomatic and Prenatal.

Human Genetics Market by Product: Consumables, Devices and Accessories.

Human Genetics Market by Applications: Research, Diagnostic and Forensic Science and Others.

Human Genetics Market by End-Users: hospitals, clinics, research centers and forensic departments.

Human Genetics Market Growth Influencer:

The growth driver includes advancement of genetics testing technologies, rising genetic diseases, and rising awareness in terms of increasing knowledge about the potential benefits in genetic testing. Furthermore, aging population and increasing incidence of cancer cases are the other factors propelling growth of human genetics market.

The market for screening the newborns, diagnosing rare and fatal disorders, and predicting the probability of occurrence of abnormalities & diseases are likely to expand. Particularly, genetic tests to screen the newborns are expected to expand immensely over the coming years. Furthermore, the genetic disorders caused by microorganisms such Zika virus is one of the major concern behind of microcephaly. Microcephaly is a birth defect that is associated with a small head and incomplete brain development in newborns that transferred from mother to her child. Such, diseases are expected raise the application of the human genetic studies there by driving by the market. However, the high costing instruments and lack of experienced professionals are the major restraints for the growth of Human genetics market.

Access Report Details @ https://www.marketresearchfuture.com/reports/human-genetics-market

About Market Research Future:

At Market Research Future (MRFR), we enable our customers to unravel the complexity of various industries through our Cooked Research Report (CRR), Half-Cooked Research Reports (HCRR), Raw Research Reports (3R), Continuous-Feed Research (CFR), and Market Research & Consulting Services.

MRFR team have supreme objective to provide the optimum quality market research and intelligence services to our clients. Our market research studies by products, services, technologies, applications, end users, and market players for global, regional, and country level market segments, enable our clients to see more, know more, and do more, which help to answer all their most important questions.

Media Contact Company Name: Market Research Future Contact Person: Akash Anand Email: Send Email Phone: +1 646 845 9312 Address:Magarpatta Road, Hadapsar, Pune 411028 Maharashtra, India City: Pune State: Maharashtra Country: India Website: https://www.marketresearchfuture.com/reports/human-genetics-market

Originally posted here:

Human Genetics Market Analysis and Global Forecast to 2024 ... - Press Release Rocket

Students present novel concepts at IdeaFest – The Volante

Students present their research projects during a poster session at the 2017 IdeaFest. This is the 25th year the event has been held. Morgan Matzen / The Volante

IdeaFest, an annual showcase of graduate and undergraduate student research, was held on Wednesday and Thursday for its 25th year at USD.

Wednesdays events included a poster session on the main and secondfloors of the Munster University Center where students posted their work for anyone interestedto interact with and ask questions.

Jeff Beck, a graduate student studying basic biomedical sciences, conducted research on twin genetics.

What we want to do is associate genetic information with that genotypic information that has been collected over time, Beck said. Weve created a microarray which is able to assess the genetic differences between individuals.

Beck said hes interested in research because he gets to see how humans are directly impacted instead ofusinganimal models to study human conditions.

The biggest thing for me is the opportunity of being able to study human genetics, Beck said. It takes out the common argument that a lot of people have against science is using animal models to associate their studies with humans. By studying humans directly, we can directly translate our findings into human conditions.

Sophomore health sciences major Jonni Buckman researched Sudden Infant Death Syndrome (SIDS) because of a personal connection. She said she joined IdeaFest for her class on diseases.

I did my research on SIDS because my grandma lost a baby to SIDS, and its a curiosity of mine because they still havent found a cause for it, Buckman said. I also chose it because Im Native American, and Native American babies are more likely to have it happen to them than any other race.

First-year Elena Freeman is triple-majoring in international studies, philosophy and French, and she chose to research commonalities in cross-cultural identity. Freeman conducted six interviews with completely different people for her study.

Our main goal was just to find people who were different from each other with as little similarities as possible, she said. We asked very open-ended questions that had to do with identity. We wanted to see through their stories how their experiences were transferred into their identity, and we wanted to see if there were any common themes through all the interviews.

Freeman found that openness was a common, positive trait as well as turning points and environment. She said she plans to make a documentary on the subject.

We found that each one throughout their life was more open to theidentities that theyve had, and each saw that openness was a positive trait in their growth in their identities, Freeman said. They each had turning points in their life where they would find a new aspect of their identity that they wanted to be dominant. Depending on where these people were and where the story took place, they would describe their identities differently.

Brennan Jordan, an earth sciences professor, delivers a keynote address at IdeaFest on Thursday. His address focused on sustainability issues in Iceland. Clay Conover / The Volante

Brennan Jordan, an Earth sciences associate professor, gave a lecture about Icelands unique geography, ecology and history as the keynote speaker in the MUC ballroom on Thursday.

Jordans research focused on the relationship between volcanoes and plate tectonics. Over the course of his career, Jordan has spent time in Iceland doing research.

Jordan teaches an Iceland Volcanology Field Camp course every summer, where he takes students from across the country to Iceland to study its unique geology and ecology.

In 2012, I started to develop a Volcanology Field Camp, Jordan said. Geologists, as they near the completion of their undergraduate degrees, often do an intensive field course called a geology field camp, and I have taught quite a few of those Including this year, I will have taken 134 students to Iceland over the years.

Jordans lecture, titled Iceland: From an Unsustainable Past to Sustainable Future, focused on Icelands history of sustainability. He explained how earlier in its history Iceland didnt have the sustainable practices its now famous for.

At one point, Jordan said, Iceland had up to 40 percent forest coverage, but deforestation has taken many of the trees. Now, Iceland hasonly about one percent forest coverage.

Iceland, when you encounter it today, you see this stark tree free landscape thats beautiful, but at the time that settlement occurred, it is estimated that 25 to 40 percent was covered by berch forest, Jordan said. Between that time and 1950, the forest dropped to as low as one percent or even half a percent.

Since then, Iceland has adopted many sustainable practices, Jordan said. Now, Iceland makes almost all its power from geothermal and hydro-electric power.

When people talk about Iceland as an example of a sustainable nation, energy is usually first and foremost on their minds, Jordan said. Nearly 100 percent of the electricity generation in Iceland is by renewable methods. Its basically by hydro-electric power and geothermal power.

Jordan ended the lecture with what he called a reality check.He tried to dispelcommon misconceptions about Icelands politics, history and culture.

With the center-right governments pretty pro-business perspective, the environment is pretty much constantly being threatened by new developments, Jordan said. In this sense, its not quite the politically progressive place we might think.

By Morgan Matzen and Clay Conover

comments

Read the original:

Students present novel concepts at IdeaFest - The Volante

Employees who decline genetic testing could face penalties under proposed bill – Washington Post

Employers could impose hefty penalties on employees who decline to participate in genetic testing as part of workplace wellness programs if a bill approved by a U.S. House committee this week becomes law.

In general, employersdon't have that power under existing federal laws, which protect genetic privacy and nondiscrimination. But a bill passed Wednesday by theHouse Committee on Education and the Workforce would allow employers to get around thoseobstacles if the information is collected as part of a workplace wellness program.

Suchprograms which offer workers a variety ofcarrots and sticksto monitor and improve their health, such as lowering cholesterol have become increasingly popularwith companies.Some offer discounts on health insurance to employees who complete health-risk assessments. Others might charge people more for smoking.Under the Affordable Care Act, employers are allowed to discount health insurance premiums by up to 30 percent and in some cases 50 percent for employees who voluntarily participate in a wellness program.

[Obamacare revision clears two House committees as Trump, others tried to tamp down backlash]

The bill is under review by other House committees and still must be considered by the Senate. But it has already faced strong criticism from a broad array of groups, as well as House Democrats. In a letter sent to the committee earlier this week, nearly 70 organizations representing consumer, health and medical advocacy groups, including the American Academy of Pediatrics, AARP, March of Dimes and the National Women's Law Center said the legislation, if enacted, would undermine basic privacy provisions of the Americans With Disabilities Act and the 2008 Genetic Information Nondiscrimination Act(GINA).

Congress passed GINA to prohibit discrimination by health insurers and employers based on the information that people carry in their genes. There is an exception that allows for employees to provide that information as part of voluntary wellness programs. But the law states that employee participation must be entirely voluntary, with no incentives for providing the dataor penalties for not providing it.

But theHouse legislation would allow employers to impose penalties of up to 30 percent of the total cost of the employee's health insurance on those who choose to keep such information private.

[Rich Americans seem to have found a way to avoid paying a key Obamacare tax]

It's a terrible Hobson's choice between affordable health insurance and protecting one's genetic privacy, said Derek Scholes, director of science policy at the American Society of Human Genetics, which represents human genetics specialists. The organization sent aletter to the committee opposing the bill.

The average annual premium for employer-sponsored family health coverage in 2016 was $18,142, according to the Kaiser Family Foundation. Under the plan proposed in the bill, a wellness program could charge employees an extra $5,443 in annual premiums if they choose not to share their genetic and health information.

The bill, Preserving Employee Wellness Programs Act, HR 1313, was introduced by Rep. Virginia Foxx, (R-N.C.), who chairs the Committee on Education and the Workforce. A committee statement said the bill provides employers the legal certainty they need to offer employee wellness plans, helping to promote a healthy workforce and lower health care costs. It passed on a party-line vote, with all 22 Republicans supporting it and all 17 Democrats opposed.

The bills supporters in the business community have argued that competing regulations in federal laws make it too difficult for companies to offer these wellness programs. In congressional testimony this month, the American Benefits Council, which represents major employers, said the burdensome rules jeopardize wellness programs that improve employee health, can increase productivity and reduce health care spending.

A House committee spokeswoman told CNBC that those opposed to the bill are spreading false informationin a desperate attempt to deny employees the choice to participate in a voluntary program that can reduce health insurance costs and encourage healthy lifestyle choices.

Read more:

Deadly fungal infection that doctors have been fearing now reported in U.S.

Obamacare repeal guts crucial public health spending, including prevention of disease outbreaks

These 12 superbugs pose the greatest threat to human health, WHO says

Read more:

Employees who decline genetic testing could face penalties under proposed bill - Washington Post

GOP-sponsored bill may help companies obtain your genetic information – Fox News

House Democrats and a number of privacy advocacy groups came out against a House GOP-sponsored bill that would reportedly make it easier for employers to gain access to genetic information about their employees and their families.

The New York Times reported Friday that the bill-- called the Preserving Employee Wellness Programs Act-- may also significantly increase the costs if someone chooses not to participate in a company wellness program that requires the genetic information.

Fortune magazine summed up the bill: it would essentially allow companies with workplace wellness programs to demand your genetic information (or force you to pay a big penalty.)

The bill was introduced by Rep. Virginia Foxx, R-N.C., the chairwoman of the House Committee on Education and the Workforce. The bill reportedly passed its first test in a committee vote that went straight down party line. The bill is still under review by other House committees.

A spokeswoman for the House committee told The Times that "the legislation will reaffirm existing law and provide regulatory clarity so that employers can have the certainty they need to help lower health care costs for their employees.

There is debate on the effectiveness of workplace wellness programs in general.

"We urge the Committee not to move forward with consideration of this bill," Nancy J. Cox, PhD, the president of the American Society of Human Genetics, said in a statement. As longtime advocates of genetic privacy, we instead encourage the Committee to pursue ways to foster workplace wellness and employee health without infringing upon the civil rights afforded by ADA and GINA."

She said if enacted, the bill would "fundamentally undermine" the Genetic information Nondiscrimination Act and the Americans with Disabilities Act.

Edmund DeMarche is a news editor for FoxNews.com. Follow him on Twitter @EDeMarche.

Read more here:

GOP-sponsored bill may help companies obtain your genetic information - Fox News

Genetics organization opposes Stefanik-backed workplace wellness … – Glens Falls Post-Star (blog)

A national society of genetics researchers, counselors, nurses and college professors is opposing legislation U.S. Rep. Elise Stefanik, R-Willsboro, co-sponsored to clarify nondiscrimination rules for employee health insurance programs that provide incentives, rebates, surcharges or penalties based on lifestyle choices such as being over weight or smoking.

The proposed legislation would allow employers to ask invasive questions of employees and penalize employees who choose not to disclose the information, the American Society of Human Genetics said in a press release issued on Wednesday.

While ASHG applauds efforts to improve employee wellness, employee protections against genetic discrimination must not be sacrificed, said Nancy Cox, president of the society. Americans must be able to continue to volunteer for research and benefit from genetic-based-clinical advances without fear of workplace discrimination based on its findings.

Stefanik on Tuesday co-sponsored the legislation, dubbed the Preserving Employee Wellness Act, which Rep. Virginia Foxx, R-N.C., introduced March 2, according to the Library of Congress government information web site.

The legislation HR 1313 had three co-sponsors, as of Thursday all Republicans.

Congress has a strong tradition of protecting and preserving employee workplace programs, including programs that utilize a health risk assessment, biometric screening, or other resources to inform and empower employees in making healthier lifestyle choices, the legislation reads. Health promotion and prevention programs are a means to reduce the burden of chronic illness, improve health and limit the growth of health care costs.

The legislation includes language to protect privacy.

Congress has struck an appropriate balance among employees, health care providers, and wellness plan sponsors to protect individual privacy and confidentiality in a wellness program which is designed to improve health outcomes, the legislation reads.

Follow staff writer Maury Thompson at All Politics is Local blog, at PS_Politics on Twitter and at Maury Thompson Post-Star on Facebook.

Here is the original post:

Genetics organization opposes Stefanik-backed workplace wellness ... - Glens Falls Post-Star (blog)

Mutations in CWC27 result in a spectrum of developmental conditions – Medical Xpress

March 10, 2017

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

"CWC27 is a new disease-associated gene," said co-senior author Dr. Rui Chen, associate professor of molecular and human genetics at Baylor College of Medicine.

One of the goals of the Chen lab is to identify genes involved with human retinal disease, such as retinitis pigmentosa, a condition characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually impaired around the world due to this untreatable disease.

"In our search for genes linked to retinitis pigmentosa, we identified a patient with the condition more than two years ago," said co-first author Mingchu Xu, graduate student in molecular and human genetics in the Chen lab. "We identified a frameshift mutation in CWC27. The patient did not have other conditions in addition to the vision problems. To study the condition, we mimicked the human mutation in a mouse model, and at 6 months of age the mice showed retinal degeneration and no other conditions, just as we had observed in the human patient."

CWC27 is one of more than 100 genes that participate in the formation and function of the spliceosome, a molecular machine that is involved in the correct expression of the proteins that carry out the functions of all the cells in the body. Until now, most disease-associated genes of the spliceosome had been involved in two non-overlapping conditions. For instance, mutations in certain proteins of the spliceosome cause syndromes that involve mainly craniofacial and skeletal conditions, while mutations in other spliceosome genes result only in retinitis pigmentosa. CWC27 seemed to belong to the second group of genes.

Surprising results

"Interestingly, our collaborator Dr. Daniel Schorderet, director of the Institute for Research in Ophthalmology in Switzerland and co-senior author of the paper, was working with patients who have mutations in CWC27 and present with more severe clinical conditions than our patient, including craniofacial and skeletal problems in addition to problems with vision," Xu said.

"When we looked at the clinical characteristics of all the patients, we did not anticipate that they would have mutations in the same gene. Only when we looked at the genes did we realize that the spectrum of clinical characteristic in the patients was the result of various mutations in the same gene, CWC27," Chen said.

By applying exome sequencing to multiple families and modeling the disease in two mouse models the researchers were able to appreciate the spectrum of clinical conditions that mutations in the same gene can cause.

"This is the first time a mutation of a gene in the spliceosome has been described to result in an entire spectrum of clinical conditions," Xu said. "To explain why our patient presented only with vision problems, we hypothesized that the mutation in our patient's CWC27 was milder than those of other patients. By analyzing the results on mouse models and patient samples, we found that the mutant gene in our patient probably retains a residual function, while the genes in the patients of the other groups have a more severe loss of function."

"This study also shows the power of collaboration within the genetics community when looking for new disease-associated genes," Xu said. "Initially, we only identified one patient and then we collected more cases via two platforms, GeneMatcher and the European Retinal Disease Consortium. We would not have been able to present this interesting story without the contributions of researchers from nine countries. With exome sequencing accessible to more patients and researchers, these platforms will most likely speed up the process of finding the genetic causes of human diseases."

Explore further: Improving the view on the genetic causes of retinitis pigmentosa

More information: Mingchu Xu et al. Mutations in the Spliceosome ComponentCWC27Cause Retinal Degeneration with or without Additional Developmental Anomalies, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.02.008

Progressive development of night blindness and tunnel vision, sometimes from the early age of 2, are trademarks of retinitis pigmentosa. Being the most common inherited disorder of the retina, retinitis pigmentosa affects ...

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these ...

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex ...

Researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital with funding from Fight for Sight, in collaboration with a team from Baylor College of Medicine in the USA, have discovered a new retinitis pigmentosa ...

A neurodevelopmental disorder for which there was no known cause has been linked to SON, a gene that is involved in essential mechanisms a cell uses to translate DNA into protein, as well as in DNA replication and cell division. ...

Scientists have linked a gene called PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a better understanding of the genetic ...

Recent study out of the University of Ottawa opens door for new disease therapies in cancer, ALS, Fragile X Syndrome and others.

An unusual case of a rare anemia is opening scientists up to a new way of thinking about how to adapt and employ cytokines, messenger molecules of the blood and immune system, as tools for treatmenttools that are more ...

Cells face a daunting task. They have to neatly pack a several meter-long thread of genetic material into a nucleus that measures only five micrometers across. This origami creates spatial interactions between genes and their ...

By the time they turn 50, half of European men have some degree of hair loss. For many, it will begin far earlier than that, and yet male pattern baldness is poorly understood.

A component of vertebrate neurons known as the axon initial segment (AIS) that is responsible for regulating the nerve cell's output has long been thought by scientists to have evolved relatively recently, and specifically ...

Researchers have uncovered new genetic clues to understanding IgA nephropathy (IgAN), or Berger's disease, an autoimmune kidney disease and a common cause of kidney failure. The findings are relevant to IgAN as well as other ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

See original here:

Mutations in CWC27 result in a spectrum of developmental conditions - Medical Xpress

Using DNA as a Tool to Understand Human History – Penn Current

If you want to know the secrets of human ancestry and evolution, look no further than genetics, says Theodore Schurr, a Penn professor of anthropology.

Genetics allows you to look at population dynamics, the history of genetic lineages, and relationships between individuals. With genetics, you can try to reconstruct the processes that gave rise to the human diversity we see today and determine where its roots lie, he says. Those kinds of questions interest me.

Broadly speaking, Schurrs research falls under the category of biological or physical anthropology, or the study of human behavior, bones, and biology. But thats putting it too simply. During a career that has spanned more than three decades, hes traveled the globe working with villagers in Turkey, Inuit in the Canadian Arctic, and a dozen other under-studied communities in far-flung outposts. He builds trust with the people, and then immerses himself to better understand their origins using DNA analysis. The goal is to create a comprehensive picture of each groups genetic history and the factors that have shaped it.

What Ive aimed to do with my work is to determine where there are interesting historical questions to answer using genetic data, identify patterns of diversity that we dont fully understand, and go to places where people havent yet traveled to do this kind of biological research, he says.

Some might view this kind of science as extending beyond the boundaries of anthropology, given the heavy reliance on genetics and DNA analysis. But once you look closely at how Schurr got where he is today, it makes sense.

His work-life began in the laboratory of Douglas Wallace, then at Emory University and now a professor at Penns Perelman School of Medicine and at the Childrens Hospital of Philadelphia (CHOP). Together, they studied human mitochondrial genetics, at that time a new field Wallace founded, one that centers on mitochondrial DNA (mtDNA) and biology.

Mitochondrial DNA differs from nuclear DNA in that it only comes from the mother and has a very high rate of mutation. Researchers can learn from how it interacts with nuclear DNA (which exists in cell nuclei), as well as use it to study certain diseases and reconstruct the genetic migration of women.

What Ive aimed to do with my work is to determine where there are interesting historical questions to answer using genetic data, identify patterns of diversity that we dont fully understand, and go to places where people havent yet traveled to do this kind of biological research.

It gives us a clear picture of maternal lines that extend back in time many generations, and ultimately to the ancestresses of our species, Schurr explains.

When Schurr began working as a technician in Wallaces lab, few other researchers were thinking about mtDNA. The pair co-authored the first paper showing that it could cause disease, and pioneered a new way to study it, using well-tested anthropological practices.

We only studied indigenous people. Thats critical to avoid drawing erroneous conclusions resulting from more recent migrations and genetic mixture, Wallace says. If you go back to the indigenous people, you find that they have very specific lineages that arose with the original population and are linked to the populations identity. Tads research has continued to make this critical connection between careful anthropological research and exacting molecular genetic analysis. This is true molecular anthropology, and is the approach now used around the world.

In graduate school, Schurr studied mtDNA variation in Siberia as it related to Native Americans, then began incorporating Y-chromosomes and autosomal markers into research to understand the entire familial genetic backstory. Y-chromosomes pass from father to son and complement the matrilineal mitochondrial DNA. Autosomeschromosomes that are not sex-linkedreveal information about both parents that cant be traced back to the other two ancestry signals.

Each of these different kinds of DNA gives us a slightly different picture of genetic history and the forces that have shaped it, Schurr says.

Spend any time talking with Schurr about the places hes been and the people hes met, however, and its clear the work is about much more than DNA strands and genes. Schurr tries to visit every community in person to accomplish the anthropological aspects of his work that are impossible to do remotely.

There is no substitute for actually being on location and seeing a place and what the landscape looks like, meeting the people living there, talking to them, getting a sense of their history, he says. Its personal contact, which makes the work more interesting. People all have the same questions about their history and genealogy, and their interest facilitates our efforts to elucidate them. Most communities are pretty welcoming to the researchas long as they understand the work taking place.

He cites the example of aboriginal Australians he and a team published about in late 2016 in the Journal of Human Genetics. This group was, in relatively modern history, exploited and killed by white Europeans, and in the post-colonial context, marginalized socially and politically. As such, they were reticent to participate in any sort of genetic research, leaving large gaps in the understanding of their genetic history, and by extension, modern human ancestry.

Recent policy changes have started to offer them more protections. In coordination with an aboriginal Australian researcher, and strictly following the aboriginal communities ethical guidelines, Schurr and colleagues gained access to and the trust of more than 500 such Australians. The researchers were able to conduct the first systematic mtDNA survey there, discovering new lineages.

Its a testament to how [collaborating] with communities on projects like this can be successfully done and the results are fairly extraordinary because of their participation. Its mutually beneficial, he says. You can work with individual communities on genetic studies and learn a tremendous amount by engaging with them.

Hes seen this time and again. In Turkey, research revealed that religious and ethnic backgrounds varied slightly from village to village. Some ancestry traced back to the Greeks, others to people from the Caucuses, some to invading Turkic tribes. In Trinidad, in the Caribbean, he discovered what he calls a complex genetic dance compounded by the arrival of non-natives.

The indigenous [people] have their origins in these areas, Schurr explains, but also, they themselves are the product of historical mixing of African, European, and South Asian peoples since colonial entry there.

Schurr says he tries to return to communities to share his results with participants, but if going back in person isnt possible, he finds another way to communicate his findings. He also aims to publish all his data in peer-reviewed journals or as book chapters, to build on the archive of material about the path of the worlds people.

[Theodore Schurrs] research has continued to make this critical connection between careful anthropological research and exacting molecular genetic analysis. This is true molecular anthropology, and is the approach now used around the world.

Hes been prolific: Schurr currently has three papers in press, about the genetic diversity of the Svan people in the country of Georgia, variations in Y-chromosomes in native South American populations, and a possible link between susceptibility to human papillomavirus and mtDNA in Argentinean populations. That doesnt count the four additional papers he thinks will come in the near future, and another dozen or so in development.

His methods have also made their way into clinical settings, by way of people like his former graduate student Matthew Dulik, now a director in the clinical diagnostics lab at CHOP. In Schurrs lab they worked on the genetic diversity of southern Siberias Altai-Sayan region. Dulik sequenced and analyzed mtDNA and Y-chromosomal DNA samples from indigenous Altaians, and he says he became familiar with techniques and equipment that he still uses today.

Youre always going to learn something but its also an enjoyable time, Dulik says, of working with Schurr. In his lab, there is a structure but he also gives you enough free rein to explore ideas and really lets you develop as a researcher.

Its this combination of structure and freedom, of tying together DNA analysis and genetics with anthropological practices, that has allowed Schurr to make true scientific headway. Wallace calls him a leader in the field.

Hes been extraordinarily successful. Hes done a great job, Wallace says. Hes doing a lot of really beautiful work.

Work that will, with any luck, continue to unlock the mysteries of how people became who they are in some of the farthest reaches of the world.

See the original post:

Using DNA as a Tool to Understand Human History - Penn Current

For the first time ever, scientists have edited the genetic makeup of viable human embryos – Quartz

Our genetically edited future is nigh. Chinese researchers, who have been at the forefront of experimenting with human embryos using a technology called CRISPR, are improving on their results year after year.

For the past three years, these researchers had been experimenting on non-viable human embryos, which are created when two sperms fertilize the same egg. Such embryos do not have a chance of becoming a full-grown human. Despite CRISPR being heralded as the most precise genetic copy-paste tool ever developed, its error rate had been too high to allow, ethically speaking, experiments on viable human embryos.

That has now changed. Researchers made the case that non-viable embryos were so genetically abnormal that their inaccurate results didnt give a true picture of the state of the technology. So, in a new study published in Molecular Genetics and Genomics, researchers at the Guangzhou Medical University have used CRISPR on viable human embryos. As they had hoped, the studys results are more promising than the work done in non-viable embryos.

The current aim of the researchers is to try and edit out simple genetic mutations that we know cause disease. For instance, a mutation called beta41-42 causes the blood disease beta-thalassaemia. In 2015, the attempts to remove the mutated gene were successful in fewer than one in ten cases.

In the latest study, the researchers used donated immature eggs. Usually such eggs are discarded, but if used for fertilization there have been cases that have resulted in viable embryos that went on to become full-grown humans. The researchers fertilized six such eggs with sperm from two men who each carried a different genetic mutation. One had a mutation in the gene that codes for the G6PD enzyme and causes favism (a condition where eating fava beans causes destruction of red blood cells). The other had the mutation for beta-thalassaemia.

Using CRISPR, the researchers fixed one embryo fully to cure favism, and fixed some of the cells in two other embryos. Such partial fixes result in mosaics, where if the embryo were to come to term it would result in a human having some cells in the body with the mutation and others without. Mosaicism is not ideal, but with some diseases, such as metabolic liver disease, it does result in a cure. Two embryos did not have any fixes and in one CRISPR caused wrong mutations.

It is encouraging, Robin Lovell-Badge of the Francis Crick Institute told the New Scientist, to see that viable embryos show slightly better results. But, he warned, the study was done on too few human embryos for firm takeaways just yet.

Beyond China, two other research groups in the UK and Sweden are working on CRISPR-editing viable human embryos. The New Scientist also notes rumors that three or four studies on the use of CRISPR in human embryos have been completed but not yet published. Our genetically edited future appears to be closer than most people think.

Read next: 2015 was the year it became OK to genetically engineer babies

Read the rest here:

For the first time ever, scientists have edited the genetic makeup of viable human embryos - Quartz

Mutations in CWC27 result in spectrum of conditions – Baylor College of Medicine News (press release)

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

CWC27 is a new disease-associated gene, said co-senior author Dr. Rui Chen, associate professor of molecular and human genetics at Baylor College of Medicine.

One of the goals of the Chen lab is to identify genes involved with human retinal disease, such as retinitis pigmentosa, a condition characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually impaired around the world due to this untreatable disease.

In our search for genes linked to retinitis pigmentosa, we identified a patient with the condition more than two years ago, said co-first author Mingchu Xu, graduate student in molecular and human genetics in the Chen lab. We identified a frameshift mutation in CWC27. The patient did not have other conditions in addition to the vision problems. To study the condition, we mimicked the human mutation in a mouse model, and at 6 months of age the mice showed retinal degeneration and no other conditions, just as we had observed in the human patient.

CWC27 is one of more than 100 genes that participate in the formation and function of the spliceosome, a molecular machine that is involved in the correct expression of the proteins that carry out the functions of all the cells in the body. Until now, most disease-associated genes of the spliceosome had been involved in two non-overlapping conditions. For instance, mutations in certain proteins of the spliceosome cause syndromes that involve mainly craniofacial and skeletal conditions, while mutations in other spliceosome genes result only in retinitis pigmentosa. CWC27 seemed to belong to the second group of genes.

Surprising results

Interestingly, our collaborator Dr. Daniel Schorderet, director of the Institute for Research in Ophthalmology in Switzerland and co-senior author of the paper, was working with patients who have mutations in CWC27 and present with more severe clinical conditions than our patient, including craniofacial and skeletal problems in addition to problems with vision, Xu said.

When we looked at the clinical characteristics of all the patients, we did not anticipate that they would have mutations in the same gene. Only when we looked at the genes did we realize that the spectrum of clinical characteristic in the patients was the result of various mutations in the same gene, CWC27, Chen said.

By applying exome sequencing to multiple families and modeling the disease in two mouse models the researchers were able to appreciate the spectrum of clinical conditions that mutations in the same gene can cause.

This is the first time a mutation of a gene in the spliceosome has been described to result in an entire spectrum of clinical conditions, Xu said. To explain why our patient presented only with vision problems, we hypothesized that the mutation in our patients CWC27 was milder than those of other patients. By analyzing the results on mouse models and patient samples, we found that the mutant gene in our patient probably retains a residual function, while the genes in the patients of the other groups have a more severe loss of function.

This study also shows the power of collaboration within the genetics community when looking for new disease-associated genes, Xu said. Initially, we only identified one patient and then we collected more cases via two platforms, GeneMatcher and the European Retinal Disease Consortium. We would not have been able to present this interesting story without the contributions of researchers from nine countries. With exome sequencing accessible to more patients and researchers, these platforms will most likely speed up the process of finding the genetic causes of human diseases.

Seea complete list of authors and their affiliations and the financial support for this project.

See more here:

Mutations in CWC27 result in spectrum of conditions - Baylor College of Medicine News (press release)

House Republicans would let employers demand workers’ genetic test results – STAT

A

little-noticed bill moving through Congress would allow companiesto require employees to undergo genetic testing or risk paying a penalty of thousands of dollars, and would let employerssee that genetic and other health information.

Giving employers such power is now prohibited by legislation including the 2008 genetic privacy and nondiscrimination law known as GINA. The new bill gets around that landmark law by stating explicitly that GINA and other protections do not apply when genetic tests are part of a workplace wellness program.

The bill was approved by a House committee on Wednesday, with all 22 Republicans supporting it and all 17 Democrats opposed. It has been overshadowed by the debate over the House GOP proposalto repeal and replace the Affordable Care Act, but the genetic testing bill isexpected to be folded into a second ACA-related measure containing a grab-bag of provisions that do not affect federal spending, as the main bill does.

article continues after advertisement

What this bill would do is completely take away the protections of existinglaws, said Jennifer Mathis, director of policy and legal advocacy at the Bazelon Center for Mental Health Law, a civil rights group. In particular, privacy and other protections for genetic and health information in GINA and the 1990 Americans with Disabilities Act would be pretty much eviscerated, she said.

Employers say they need the changes because those two landmark laws are not aligned in a consistent manner with laws about workplace wellness programs, as an employer group said in congressional testimony last week.

Top wellness award goes to workplace where many health measures got worse

Employers got virtually everything they wanted for their workplace wellness programs during the Obama administration. The ACA allowed them to charge employees 50 percent more for health insurance if they declined to participate in the voluntary programs, which typically include cholesterol and other screenings; health questionnaires that ask about personal habits including plans to get pregnant; and sometimes weight loss and smoking cessation classes. And in rules that Obamas Equal Employment Opportunity Commission issued last year, a workplace wellness program counts as voluntary even if workers have to pay thousands of dollars more in premiums and deductibles if they dont participate.

Despite those wins, the business community chafed at what it saw as the last obstacles to unfettered implementation of wellness programs: the genetic information and the disabilities laws. Both measures, according to congressional testimony last week by the American Benefits Council, put at risk the availability and effectiveness of workplace wellness programs, depriving employees of benefits like improved health and productivity. The Council represents Fortune 500 companies and other large employers that provide employee benefits. It did not immediately respond to questions about how lack of access to genetic information hampers wellness programs.

Rigorous studies by researchers not tied to the $8 billion wellness industry have shown that the programs improve employee health little if at all. An industry group recently concluded that they save so little on medical costs that, on average, the programs lose money. But employers continue to embrace them, partly as a way to shift more health care costs to workers, including by penalizing them financially.

Do workplace wellness programs improve employees health?

The 2008 genetic law prohibits a group health plan the kind employers have from asking, let alone requiring, someone to undergo a genetic test. It also prohibits that specifically for underwriting purposes, which is where wellness programs come in. Underwriting purposes includes basing insurance deductibles, rebates, rewards, or other financial incentives on completing a health risk assessment or health screenings. In addition, anygenetic information canbe provided to the employer only in a de-identified, aggregated form, rather than in a way that reveals which individual has which genetic profile.

There is a big exception, however: as long as employers makeproviding genetic information voluntary, theycan ask employees for it. Under the House bill, none of the protections for health and genetic information provided by GINA or the disabilities lawwould apply to workplace wellness programs. As a result, employers could demand that employees undergo genetic testing and health screenings.

While the information returned to employers would not include workers names, its not difficult, especially in a small company, to match a genetic profile with the individual.

That would undermine fundamentally the privacy provisions of those laws, said Nancy Cox, president of the American Society of Human Genetics, in a letter to the House Committee on Education and the Workforce the day before it approved the bill. It would allow employers to ask employees invasive questions about genetic tests they and their families have undergone and to impose stiff financial penalties on employees who choose to keep such information private, thus empowering employers to coerce their employees into providing their genetic information.

If an employer has a wellness program but does not sponsor health insurance, rather than increasing insurance premiums, the employer could dock the paychecks of workers who dont participate.

The privacy concerns also arise from how workplace wellness programs work. Employers, especially large ones, generally hire outside companies to run them. These companies are largely unregulated, and they are allowed to see genetic test results with employee names.

They sometimes sell the health information they collect from employees. As a result, employees get unexpected pitches for everything from weight-loss programs to running shoes, thanks to countless strangers poring over their health and genetic information.

Sharon Begley can be reached at sharon.begley@statnews.com Follow Sharon on Twitter @sxbegle

Continue reading here:

House Republicans would let employers demand workers' genetic test results - STAT

Social phobia: Indication of a genetic cause: Study supports link with … – Science Daily


Science Daily
Social phobia: Indication of a genetic cause: Study supports link with ...
Science Daily
People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life. Researchers have now ...

and more »

Here is the original post:

Social phobia: Indication of a genetic cause: Study supports link with ... - Science Daily

What does it mean to be human? – The Independent

The Rock of Gibraltar appears out of the plane window as an immense limestone monolith sharply rearing up from the base of Spain into the Mediterranean. One of the ancient Pillars of Hercules, it marked the end of the Earth in classical times. Greek sailors didnt go past it. Atlantis, the unknown, lay beyond.

In summer 2016, Gibraltar is in the throes of a 21st-century identity crisis: geographically a part of Spain, politically a part of Britain; now torn, post-Brexit, between its colonial and European Union ties. For such a small area less than seven square kilometres Gibraltar is home to an extraordinarily diverse human population. It has been home to people of all types over the millennia, including early Europeans at the edge of their world, Phoenicians seeking spiritual support before venturing into the Atlantic, and Carthaginians arriving in a new world from Africa.

But Ive come to see who was living here even further back, between 30,000 and 40,000 years ago, when sea levels were much lower and the climate was swinging in and out of ice ages. It was a tough time to be alive and the period saw the species that could, such as birds, migrate south to warmer climes, amid plenty of local extinctions. Among the large mammal species struggling to survive were lions, wolves and at least two types of human: our own modern human ancestors, and the last remaining populations of our cousins, the Neanderthals.

By understanding more about these prehistoric people, we can learn about who we are as a species today. Our ancestors experiences shaped us, and they may still hold answers to some of our current health problems, from diabetes to depression.

Im picked up outside my hotel by archaeologists Clive and Geraldine Finlayson, in a car that itself looks fairly ancient. Typical for this crowded little peninsula, they are of diverse origins he, pale-skinned and sandy-haired, can trace his ancestry back to Scotland; she, olive-skinned and dark-haired, from the Genoese refugees escaping Napoleons purges. How different we humans can look from each other. And yet the people whose home I am about to visit truly were of a different race.

We dont know how many species of humans there have been, how many different races of people, but the evidence suggests that around 600,000 years ago one species emerged in Africa that used fire, made simple tools from stones and animal bones, and hunted big animals in large cooperative groups. And 500,000 years ago, these humans, known as Homo heidelbergensis, began to take advantage of fluctuating climate changes that regularly greened the African continent, and spread into Europe and beyond.

The use of tools could be part of a wider breadth of survival adaptations, including resistance to plague and HIV ( Tom Sewell)

By 300,000 years ago, though, migration into Europe had stopped, perhaps because a severe ice age had created an impenetrable desert across the Sahara, sealing off the Africans from the other tribes. This geographic separation enabled genetic differences to evolve, eventually resulting in different races, although they were still the same species and would prove able to have fertile offspring together. The race left behind in Africa would become Homo sapiens sapiens, or modern humans; those who evolved adaptations to the cooler European north would become Neanderthals, Denisovans and others whom we can now only get a glimpse of with genetics.

Neanderthals were thriving from Siberia to southern Spain by the time a few families of modern humans made it out of Africa around 60,000 years ago. These Africans encountered Neanderthals and, on several occasions, had children with them. We know this because human DNA has been found in the genomes of Neanderthals, and because everyone alive today of European descent including me has some Neanderthal DNA in their genetic makeup. Could it be that their genes, adapted to the northerly environment, provided a selective advantage to our ancestors as well?

After driving through narrow tunnels on a road that skirts the cliff face, we pull up at a military checkpoint. Clive shows the guard our accreditation and were waved through to park inside. Safety helmets on to protect from rockslides, we leave the car and continue on foot under a low rock arch. A series of metal steps leads steeply down the cliff to a narrow shingle beach, 60 metres below. The tide is lapping the pebbles and our feet must negotiate the unstable larger rocks to find a dry path.

Ive been concentrating so hard on keeping my footing that it is something of a shock to look up and suddenly face a gaping absence in the rock wall. We have reached Gorhams Cave, a great teardrop-shaped cavern that disappears into the white cliff face and, upon entering, seems to grow in height and space. This vast, cathedral-like structure, with a roof that soars high into the interior, was used by Neanderthals for tens of thousands of years. Scientists believe it was their last refuge. When Neanderthals disappeared from here, some 32,000 years ago, we became the sole inheritors of our continent.

I pause, perched on a rock inside the entrance, in order to consider this people not so different from myself once sat here, facing the Mediterranean and Africa beyond. Before I arrived in Gibraltar, I used a commercial genome-testing service to analyse my ancestry. From the vial of saliva I sent them, they determined that 1 per cent of my DNA is Neanderthal. I dont know what health advantages or risks these genes have given me testing companies are no longer allowed to provide this level of detail but it is an extraordinary experience to be so close to the intelligent, resourceful people who bequeathed me some of their genes. Sitting in this ancient home, knowing none of them survived to today, is a poignant reminder of how vulnerable we are it could so easily have been a Neanderthal woman sitting here wondering about her extinct human cousins.

Gorhams Cave seems an oddly inaccessible place for a home. But Clive, who has been meticulously exploring the cave for 25 years, explains that the view was very different back then. With the sea levels so much lower, vast hunting plains stretched far out to sea, letting people higher on the rock spot prey and signal to each other. In front of me would have been fields of grassy dunes and lakes wetlands that were home to birds, grazing deer and other animals. Further around the peninsula to my right, where the dunes gave way to shoreline, would have been clam colonies and mounds of flint. It was idyllic, Clive says. The line of neighbouring caves here probably had the highest concentration of Neanderthals living anywhere on Earth. It was like Neanderthal City, he adds.

Deep inside the cave, Clives team of archaeologists have found the remains of fires. Further back are chambers where the inhabitants could have slept protected from hyenas, lions, leopards and other predators. They ate shellfish, pine seeds, plants and olives. They hunted big game and also birds. There was plenty of fresh water from the springs that still exist under what is now seabed, Clive says. They had spare time to sit and think they werent just surviving.

Solid writing: Neanderthal engravings might be the first examples of text ( Tom Sewell)

He and Geraldine have uncovered remarkable evidence of Neanderthal culture in the cave, including the first example of Neanderthal artwork. The hashtag, a deliberately carved rock engraving, is possibly evidence of the first steps towards writing. Other signs of symbolic or ritualistic behaviour, such as the indication that Neanderthals were making and wearing black feather capes or headdresses as well as warm clothes, all point to a social life not so different to the one our African ancestors were experiencing.

Clive shows me a variety of worked stones, bone and antler. I pick up a flint blade and hold it in my hand, marvelling at how the same technology is being passed between people biologically and culturally linked but separated by tens of thousands of years. Other sites in Europe have uncovered Neanderthal-made necklaces of strung eagle talons dating back 130,000 years, little ochre clamshell compacts presumably for adornment, and burial sites for their dead.

These people evolved outside of Africa but clearly had advanced culture and the capability to survive in a hostile environment. Consider modern humans were in the Middle East perhaps 70,000 years ago, and reached Australia more than 50,000 years ago, says Clive. Why did it take them so much longer to reach Europe? I think it was because Neanderthals were doing very well and keeping modern humans out.

But by 39,000 years ago, Neanderthals were struggling. Genetically they had low diversity because of inbreeding and they were reduced to very low numbers, partly because an extreme and rapid change of climate was pushing them out of many of their former habitats. A lot of the forested areas they depended on were disappearing and, while they were intelligent enough to adapt their tools and technology, their bodies were unable to adapt to the hunting techniques required for the new climate and landscapes.

In parts of Europe, the landscape changed in a generation from thick forest to a plain without a single tree, Clive says. Our ancestors, who were used to hunting in bigger groups on the plains, could adapt easily: instead of wildebeest they had reindeer, but effectively the way of capturing them was the same. But Neanderthals were forest people.

It couldve gone the other way if instead the climate had got wetter and warmer, we might be Neanderthals today discussing the demise of modern humans.

Although the Neanderthals, like the Denisovans and other races we are yet to identify, died out, their genetic legacy lives on in people of European and Asian descent. Between 1 and 4 per cent of our DNA is of Neanderthal origins, but we dont all carry the same genes, so across the population around 20 per cent of the Neanderthal genome is still being passed on. Thats an extraordinary amount, leading researchers to suspect that Neanderthal genes must be advantageous for survival in Europe.

Interbreeding across different races of human would have helped accelerate the accumulation of useful genes for the environment, a process that would have taken much longer to occur through evolution by natural selection. Neanderthal tweaks to our immune system, for example, may have boosted our survival in new lands, just as we prime our immune system with travel vaccines today. Many of the genes are associated with keratin, the protein in skin and hair, including some that are linked to corns and others that play a role in pigmentation Neanderthals were redheads, apparently. Perhaps these visible variants were considered appealing by our ancestors and sexually selected for, or perhaps a tougher skin offered some advantage in the colder, darker European environment.

Some Neanderthal genes, however, appear to be a disadvantage, for instance making us more prone to diseases like Crohns, urinary tract disorders and type 2 diabetes, and to depression. Others change the way we metabolise fats, risking obesity, or even make us more likely to become addicted to smoking. None of these genes are a direct cause of these complicated conditions, but they are contributory risk factors, so how did they survive selection for a thousand generations?

Its likely that for much of the time since our sexual encounters with Neanderthals, these genes were useful. When we lived as hunter-gatherers, for example, or early farmers, we would have faced times of near starvation interspersed with periods of gorging. Genes that now pose a risk of diabetes may have helped us to cope with starvation, but our new lifestyles of continual gorging on plentiful, high-calorie food now reveal harmful side effects. Perhaps it is because of such latent disadvantages that Neanderthal DNA is very slowly now being deselected from the human genome.

While I can (sort of) blame my Neanderthal ancestry for everything from mood disorders to being greedy, another archaic human race passed on genes that help modern Melanesians, such as people in Papua New Guinea, survive different conditions. Around the time that the ancestors of modern Europeans and Asians were getting friendly with Neanderthals, the ancestors of Melanesians were having sex with Denisovans, about whom we know very little. Their surviving genes, however, may help modern-day Melanesians to live at altitude by changing the way their bodies react to low levels of oxygen. Some geneticists suspect that other, yet-to-be-discovered archaic races may have influenced the genes of other human populations across the world.

Interbreeding with Neanderthal and other archaic humans certainly changed our genes, but the story doesnt end there.

I am a Londoner, but Im a little darker than many Englishwomen because my father is originally from Eastern Europe. We are attuned to such slight differences in skin colour, face shape, hair and a host of other less obvious features encountered across different parts of the world. However, there has been no interbreeding with other human races for at least 32,000 years. Even though I look very different from a Han Chinese or Bantu person, we are actually remarkably similar genetically. There is far less genetic difference between any two humans than there is between two chimpanzees, for example.

The reason for our similarity is the population bottlenecks we faced as a species, during which our numbers dropped as low as a few hundred families and we came close to extinction. As a result, we are too homogeneous to have separated into different races. Nevertheless, variety has emerged through populations being separated geographically and culturally, in some cases over thousands of years. The greatest distinctions occur in isolated populations where small genetic and cultural changes become exaggerated, and there have been many of them over the 50,000 years since my ancestors made the journey out of Africa towards Europe.

According to the analysis of my genome, my haplogroup is H4a. Haplogroups describe the mutations on our mitochondrial DNA, passed down through the maternal line, and can theoretically be used to trace a migratory path all the way back to Africa. H4a is a group shared by people in Europe, unsurprisingly, and western Asia. It is, the genome-testing company assures me, the same as Warren Buffets. So what journey did my ancestors take that would result in these mutations and give me typically European features?

I was dumped by helicopter in the wilderness with two other people, a Russian and an indigenous Yukaghir man, with our dogs, our guns, our traps, a little food and a little tea. There we had to survive and get food and furs in the coldest place on Earth where humans live naturally minus 60 degrees.

Eske Willerslev lived for six months as a trapper in Siberia in his 20s. Separately, his identical twin brother Rane did the same. When they were teenagers, their father had regularly left them in Lapland to survive alone in the wilderness for a couple of weeks, fostering a passion for the remote tundra and the people who live there, and they went on increasingly lengthy expeditions. But surviving practically alone was very different. It was a childhood dream, but it was the toughest thing I have ever done, Eske admits.

These experiences affected the twins deeply, and both have been driven towards a deeper understanding of how the challenge of survival has forged us as humans over the past 50,000 years. It led Eske into the science of genetics, and to pioneering the new field of ancient DNA sequencing. Now director of the Centre for GeoGenetics at the Natural History Museum of Denmark, Eske has sequenced the worlds oldest genome (a 700,000-year-old horse) and was the first to sequence the genome of an ancient human, a 4,000-year-old Saqqaq man from Greenland. Since then, he has gone on to sequence yet more ancient humans and, in doing so, has fundamentally changed our understanding of early human migration through Europe and beyond. If anyone can unpick my origins, it is surely Eske.

First, though, I go to meet his twin Rane, who studied humanities, went into cultural anthropology and is now a professor at Aarhus University. Hes not convinced that his brothers genetic approach can reveal all the answers to my questions: There exists an uneasy relationship between biology and culture, he tells me. Natural scientists claim they can reveal what sort of people moved around, and they are not interested in having their models challenged. But this cannot tell you anything about what people thought or what their culture was.

To put this point to Eske, I visit him in his delightful museum office, opposite a petite moated castle and in the grounds of the botanic gardens there could scarcely be a more idyllic place for a scientist to work. Greeting him for the first time, just hours after meeting Rane, is disconcerting. Identical twins are genetically and physically almost exactly the same looking back, many years from now, at DNA left by the brothers, it would be all but impossible to tell them apart or even to realise that there were two of them.

Eske tells me that he is increasingly working with archaeologists to gain additional cultural perspective, but that genetic analysis can answer questions that nothing else can. You find cultural objects in certain places and the fundamental question is: Does that mean people who made it were actually there or that it was traded? And, if you find very similar cultural objects, does that mean there was parallel or convergent cultural evolution in the two places, or does that mean there was contact? he explains.

For example, one theory says the very first people crossing into the Americas were not Native Americans but Europeans crossing the Atlantic, because the stone tools thousands of years ago in America are similar to stone tools in Europe at the same time. Only when we did the genetic testing could we see it was convergent evolution, because the guys carrying and using those tools have nothing to do with Europeans. They were Native Americans. So the genetics, in terms of migrations, is by far the most powerful tool we have available now to determine: was it people moving around or was it culture moving around? And this is really fundamental.

What Eske went on to discover about Native American origins rewrote our understanding completely. It had been thought that they were simply descendants of East Asians who had crossed the Bering Strait. In 2013, however, Eske sequenced the genome of a 24,000-year-old boy discovered in central Siberia, and found a missing link between ancient Europeans and East Asians, the descendants of whom would go on to populate America. Native Americans can thus trace their roots back to Europe as well as East Asia.

And what about my ancestors? I show Eske the H4a haplotype analysed by the sequencing company and tell him it means Im European. He laughs derisively. You could be and you could be from somewhere else, he says. The problem with the gene-sequencing tests is that you cant look at a population and work back to see when mutation arose with much accuracy the error bars are huge and it involves lots of assumptions about mutation rates.

This is why ancient genetics and ancient genomics are so powerful you can look at an individual and say, Now we know we are 5,000 years ago, how did it look? Did they have this gene or not?

The things that we thought we understood about Europeans are coming unstuck as we examine the genes of more ancient people. For example, it was generally accepted that pale skin evolved so we could get more vitamin D after moving north to where there was little sun and people had to cover up against the cold. But it turns out that it was the Yamnaya people from much further south, tall and brown-eyed, who brought pale skins to Europe. Northern Europeans before then were dark-skinned and got plenty of vitamin D from eating fish.

It is the same with lactose tolerance. Around 90 per cent of Europeans have a genetic mutation that allows them to digest milk into adulthood, and scientists had assumed that this gene evolved in farmers in northern Europe, giving them an additional food supply to help survive the long winters. But Eskes research using the genomes of hundreds of Bronze Age people, who lived after the advent of farming, has cast doubt on this theory too: We found that the genetic trait was almost non-existent in the European population. This trait only became abundant in the northern European population within the last 2,000 years, he says.

It turns out that lactose tolerance genes were also introduced by the Yamnaya. They had a slightly higher tolerance to milk than the European farmers and must have introduced it to the European gene pool. Maybe there was a disaster around 2,000 years ago that caused a population bottleneck and allowed the gene to take off. The Viking sagas talk about the sun becoming black a major volcanic eruption that could have caused a massive drop in population size, which could have been where some of that stock takes off with lactose.

While ancient genomics can help satisfy curiosity about our origins, its real value may be in trying to unpick some of the different health risks in different populations. Even when lifestyle and social factors are taken into account, some groups are at significantly higher risk of diseases such as diabetes or HIV, while other groups seem more resistant. Understanding why could help us prevent and treat these diseases more effectively.

It had been thought that resistance to infections like measles, influenza and so on arrived once we changed our culture and started farming, living in close proximity with other people and with animals. Farming started earlier in Europe, which was thought to be why we have disease resistance but Native Americans dont, and also why the genetic risks of diabetes and obesity are higher in native Australian and Chinese people than in Europeans.

We sequenced a hunter-gatherer from Spain, and he showed clear genetic resistance to a number of pathogens that he shouldnt have been exposed to, says Eske. Clearly, Europeans and other groups have a resistance that other groups dont have, but is this really a result of the early agricultural revolution in Europe, or is something else going on?

Eskes analysis of people living 5,000 years ago has also revealed massive epidemics of plague in Europe and Central Asia, 3,000 years earlier than previously thought. Around 10 per cent of all skeletons the team analysed had evidence of plague. Scandinavians and some northern Europeans have higher resistance to HIV than anywhere else in the world, Eske notes. Our theory is that their HIV resistance is partly resistance towards plague.

It could be that the cultural changes we have made, such as farming and herding, have had less influence on our genes than we thought. Perhaps it is simply the randomness of genetic mutation that has instead changed our culture. Theres no doubt that where mutations have occurred and spread through our population, they have influenced the way we look, our health risks and what we can eat. My ancestors clearly didnt stop evolving once theyd left Africa were still evolving now and they have left an intriguing trail in our genes.

At the Gibraltar Museum, a pair of Dutch archaeology artists have created life-size replicas of a Neanderthal woman and her grandson, based on finds from nearby. They are naked but for a woven amulet and decorative feathers in their wild hair. The boy, aged about four, is embracing his grandmother, who stands confidently and at ease, smiling at the viewer. Its an unnerving, extraordinarily powerful connection with someone whose genes I may well share, and I recall Clives words from when I asked him if modern humans had simply replaced Neanderthals because of our superior culture.

That replacement theory is a kind of racism. Its a very colonialist mentality, he said. Youre talking almost as if they were another species.

This articlewas first published by Wellcomeon Mosaic and is republished here under a Creative Commons licence

Professor Eske Willerslev is a research associate at the Wellcome Trust Sanger Institute, which is funded by a core grant from the Wellcome Trust, which publishes Mosaic

Read the original post:

What does it mean to be human? - The Independent