Category Archives: Human Genetics

The Department of Human Genetics is the home within the Division of Biological Sciences for the study of basic principles of genetics and genomics as applied to human disease. We provide broad training in experimental genetics and genomics, statistical and population genetics, bioinformatics, and clinical genetics. A common theme throughout our research is the application of basic genetic principles and strategies to the study of disease mechanism, disease susceptibility, and the genetic architecture of complex traits. Our faculty bridge between basic and clinical research and train students for careers in academia, industry, and medicine.

The Department of Human Genetics has an unwavering commitment to diversity, inclusion, free expression, and open discourse.These values are at the core of our roles as scientists, as teachers, and as citizens of a free society.

Science, including genetics, plays a central role in many crucial issues of our time. We are committed to generating rigorous scientific knowledge, training future scientists, and preparing our students to be well-informed citizens in a democratic society.

Link:
Department of Human Genetics | The University of Chicago

February 16, 2017 Researchers found short ribonucleic acid molecules (microRNA) even in mummies like Oetzi. Credit: Andreas Keller, Saarland University

Biomarkers are biological attributes that can give doctors or researchers clues about the health status or illnesses of a patient. Scientists are placing great hope in a new type of biomarker, so-called microRNAs. These short ribonucleic acid molecules are notable for their very high level of stability. Researchers at Saarland University, the University of Luxembourg and the Eurac Research center in Bozen have now established that such microRNAs can remain stable even after 5,300 years.

They have found the molecules in the well-known glacier mummy "tzi". A number of facts have been scientifically proven about the glacier mummy, known as "the Iceman" or "tzi," found in the tztal Alps (South Tyrol) in 1991. Through imaging techniques, we know about degeneration in his lumbar spine and a fatal arrow wound in his left shoulder. DNA analyses showed that tzi was lactose intolerant, and had brown eyes and blood type 0. Now a study of tzi's microRNAs has also been completed. MicroRNAs are very small pieces of ribonucleic acid (RNA) and play a central role in the regulation of genes.

Although these molecules are very stable in tissues, prior to this study it was unclear whether they could still be found in human tissues after thousands of years. Therefore, Professors Andreas Keller and Eckart Meese of Saarland University, Stephanie Kreis of the University of Luxembourg, and Professor Albert Zink and Frank Maixner of Eurac Research in Bozen took on the challenge. They analyzed not only tissue samples from the Iceman, but also those from a mummy of a soldier fallen in World War I. "Our investigation provides evidence that we can analyze microRNA even after thousands of years," explains Andreas Keller, Professor of Clinical Bioinformatics at Saarland University, who coordinated the study.

The scientists took samples from tzi's skin, stomach, and stomach contents. "It was a challenge to extract this genetic material in significant quantities and sufficient quality from the mummified tissue samples, and to measure and quantify it with the newest, very precise methods," reports Stephanie Kreis, who isolated the microRNAs at the University of Luxembourg. Some molecules were found that were present predominantly in the ancient tissues. Conversely, some of the biomarkers that are well-known today were not found in tzi. According to Professor Zink from Eurac Research, the microRNAs are the next important class of molecules from tzi to receive intensive examination.

Professor Meese, head of the Institute of Human Genetics at Saarland University, claims that the stability of these biomarkers is also important for people today. "It is vital for clinical applications," explains Meese. "It's evident that the potential of microRNA is much greater than we previously thought. We still don't know enough about how these molecules influence specific genes, entire gene families, or biochemical reaction pathways. When we investigate this further, it's possible microRNAs will become new stars in therapy. Until then, however, there is a lot more work to do," concludes Professor Keller.

Explore further: Scientists discover helicobacter pylori in the contents of Otzi's stomach

More information: Andreas Keller et al, miRNAs in ancient tissue specimens of the Tyrolean Iceman, Molecular Biology and Evolution (2016). DOI: 10.1093/molbev/msw291

Scientists are continually unearthing new facts about Homo sapiens from the mummified remains of tzi, the Copper Age man, who was discovered in a glacier in 1991. Five years ago, after tzi's genome was completely deciphered, ...

A study was published last week on the DNA of Helicobacter pylori, the pathogen extracted from the stomach of tzi, the ice mummy who has provided valuable information on the life of Homo Sapiens.

Scientific magazine Nature Communications publishes new findings about physiognomy, ethnic origin and predisposition towards illness of the worlds oldest glacier mummy.

In an elaborate study, biologists of the University of Luxembourg have found out that small molecules named microRNAs are, against many hopes, not yet suitable for early diagnosis of skin cancer, as well as supposedly for ...

After decoding the Iceman's genetic make-up, a research team from the European Academy of Bolzano/Bozen (EURAC), Saarland University, Kiel University and other partners has now made another major breakthrough in mummy research: ...

(PhysOrg.com) -- In a presentation at the Seventh World Congress on Mummy Studies, researchers from the Institute for Mummies and the Iceman revealed that they had finally located the iceman known as Otzis stomach and ...

(Phys.org)An international team of researchers has found a trove of marine fossils at a North American site that offers evidence of life bouncing back faster than thought after the most devastating mass extinction in Earth's ...

French pedestrians have the reputation of being a law unto themselvesbut an unusual study has provided some scientific backing for the stereotype.

A small crocodile discovered in Germany's Langenberg Quarry may be a new species, according to a study published February 15, 2017 in the open-access journal PLOS ONE by Daniela Schwarz from Leibniz Institute for Evolutionary ...

An extinct tortoise species that accidentally tumbled into a water-filled limestone sinkhole in the Bahamas about 1,000 years ago has finally made its way out, with much of its DNA intact.

An unusual and 'confusing' grave site dug up in Romania by a student from The Australian National University (ANU) is helping provide evidence for the first official written history of the Szkely people.

A remarkable 250 million-year-old "terrible-headed lizard" fossil found in China shows an embryo inside the motherclear evidence for live birth.

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

View post:
Otzi the Iceman: Researchers validate the stability of genetic markers - Phys.Org

We're creating a positive news network. We need your help.

Genetically modified humans sounds like a term that belongs inHollywood, but its actually a very real possibility, and one thats being heavily discussed in the scientific community. Contributing to one of the most controversial topics to date, a panel of science experts in the U.S. just examined and gavetheir support for germline editing. This means that in the future, parents will likely be able to tamper with the genetics of their children pre-birth.

Germinal choice technology refers to reprogenetic technologies that enable parents to alter the genetic constitutions of their children.One of the ways this can be done is through germline editing, which is a fancier term forhuman genetic engineering. Germline editing alters the genes of a sperm or an egg, but itthen changes the future DNA of every single cell in the embryo. This means that the genetic changes made to the embryos will then affect all future generations within that family lineage.

The panels were made up of experts from two of the most prestigiousscientific institutions in the U.S., both of which recommended that germline editing be viewed as a serious option in the future and not be prohibited outright (source).

This is a dramatically different stance than the last assessment given in December 2015 by aninternational summit of scientists, who stated that it would beirresponsible to proceed with germline editing given the controversy surrounding thesubject and thesafety issues involved, all of which have yet to be resolved.

The panels discussions can be further analyzed in areportreleasedearlier this week by the U.S. National Academy of Sciences and the National Academy of Medicine. The panel recommendedthat germline editing of early embryos, eggs, or sperm should only be permitted to prevent serious disease or disability iftheres significant scientific evidence illustrating that the procedures are safe.

Human genome editing holds tremendous promise for understanding, treating, or preventing many devastating genetic diseases, and for improving treatment of many other illnesses. . . . However, genome editing to enhance traits or abilities beyond ordinary health raises concerns about whether the benefits can outweigh the risks, and about fairness if available only to some people, explained Alta Charo, co-chair of the study committee and Sheldon B. Lubar Distinguished Chair and Warren P. Knowles Professor of Law and Bioethics, University of Wisconsin-Madison.

One of the illnesses the panel specifically mentionedthat germline editing could be used to prevent is Huntingtons disease, a progressive brain disorder that can result in uncontrollable movement, emotional issues, and loss in cognition, mostcommonly appearing in a persons thirties or forties. However, the panel was quick to note that withthese alterations could come some very serious side effects.

One of the potential risks includes developing new conditions, diseases, or mutations. If this happened, parents would have no idea until their babies are born and begin to mature.

Perhaps the most obvious risk is the societal implications associated with the genetic engineering of humans. If its an expensive process, meaningit will likely only be made available to upper class citizens who canafford it, it could create a designer class of babies with preferred qualities and genes.

These kinds of scenarios used to be science fiction; they used to be seen as far-off hypotheticalsBut actually, right now, I think theyre urgent social justice questions, said biotechnologist Marcy Darnovsky from the Center for Genetics and Society toRob Stein at NPR.

[W]ere going to be creating a world in which the already privileged and affluent can use these high-tech procedures to make children [with] biological advantages, she continued. And the scenario that plays out is not a pretty one.

Previously, it was easy for people to say, This isnt possible, so we dont have to think about it much, said MIT researcher Richard Hynes, who helped lead the committee, toThe New York Times. Now we can see a path whereby we might be able to do it, so we have to think about how to make sure its used only for the right things and not for the wrong things.

Transhumanism is a futuristic ideology which purportsthat humans willbe altered and improved usingsophisticated technologies in the future to upgrade ourintellectual, physical, and mental capabilities.Many scientists are actually in favour of this, especially as we become more technologically advanced, making this seem more realistic.

Elon Musk supportsthis movement, in fact, as he believes that human beings will eventuallyuse technology toenhance our inherent natural capabilities.

Over time we will see a closer merger of biological intelligence and digital intelligence. It is all about the band width of the brain, Musk said.

Some high band width interface to the brain will be something which helps achieve symbiosis between human and machine intelligence, which solves a control and usefulness problem, he continued.

Musk has spoken about this topic on several occasions. For example, last year he explained that we should considergetting brain implants in the futurebecause, without them, we may not be able to compete with artificial intelligence (AI). He also has strong opinions about AI, arguing it could pose a threat to us if we become too dependent on it (source).

I believe that genetically engineering human beings could serve us in a way, but it could also do more harm than good. Germline editing could seriously improve the lives of many if it could prevent certain diseases, but at what cost?

In addition, the fact that a man and a woman can mate and create offspring together thats made up of a mixture of their genes is trulybeautiful. Do we really want to altersomething thats already such an incredible gift in nature?

I dont think theres a right or a wrong answer here. However, there are certainly some risks involved with genetically modifying humans.Its easy to imagine how the elite could use this to further manipulate the general population, or howit could create an even greater divide between high income and low income families. The idea of creating an Aryan or superior race could even be proposed again, which would only further perpetuate the illusions of separatism and hierarchy.

Then again, it could potentially help us further advance our consciousness and awaken our inner capabilities, especially if the technology or alterations have absolutely no health risks (zero radiation/EMF exposure, no increased risk in disease, etc.).

In either case, I believe our time would be better spent further advancing our collective consciousness.If that can be done through AI, then thats incredible and Im all for it. However, we must remember that, if we truly dial in and get in touch with ourselves energetically, we have the power to heal ourselves from within. We dont need to rely on technology to save us and prevent diseases. Yes, technology plays an important role in society, but that doesnt mean we should let it overshadow our own capabilities as spiritual beings.

Read the rest here:
Genetically Modified Humans Are Coming: US Scientists Just Backed Permanent Gene Editing In Humans - Collective Evolution

GREENWOOD Self Regional Hall, a new 17,000-square-foot, state-of-the art facility that will house the Clemson University Center for Human Genetics, has opened on the campus of the Greenwood Genetic Center.

Self Regional Hall, a new 17,000-square-foot, state-of-the art facility that will house the Clemson University Center for Human Genetics. Image Credit: Craig Mahaffey / Clemson University

The facility will enable Clemsons growing genetics program to collaborate closely with the long tradition of clinical and research excellence at the Greenwood Genetic Center, combining basic science and clinical care. The center will initially focus on discovering and developing early diagnostic tools and therapies for autism, cognitive developmental disorders, oncology and lysosomal disorders.

Opening Self Regional Hall means that we will be able to do even more to help children with genetic disorders, and their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements.

As the parent of a child with special needs the kind of research that you are doing here is especially meaningful and important to me and my family, Clements said during the event. As you all know, an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.

Jim Pfeiffer (left), president and CEO of Regional Healthcare, and Clemson President James P. Clements unveil a commemorative plaque. Image Credit: Craig Mahaffey / Clemson University

According to the Centers for Disease Control and Prevention, one in six children between the ages of 3 and 17, roughly 15 percent, suffers from a developmental disorder.

Self Regional Hall is a state-of-the-art facility that provides the resources our scientists need to understand the genetic underpinnings of disorders, said Mark Leising, interim dean of the College of Science at Clemson. This facility, and its proximity to the Greenwood Genetic Center, elevates our ability to attract the brightest scientific talent to South Carolina and enhances our efforts to tackle genetic disorders.

The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty.

The facilitys name recognizes the ongoing support from Self Regional Healthcare, a healthcare system in Upstate South Carolina that has grown from the philanthropy of the late James P. Self, a textile magnate who founded Self Memorial Hospital in 1951.

The ribbon-cutting ceremony was originally scheduled for September 2016, but was delayed because of the death of state Sen. John Drummond, an ardent supporter of the Greenwood Genetic Center who helped bring Self Regional Hall to fruition.

Image Credit: Craig Mahaffey / Clemson University

Self Regional Healthcares vision is to provide superior care, experience and value. This vision includes affording our patients with access to cutting-edge technology and the latest in healthcare innovation and genomic medicine, without a doubt, is the future of healthcare, said Jim Pfeiffer, president and CEO of Self Regional Healthcare. The research and discoveries that will originate from this center will provide new options for those individuals facing intellectual and developmental disabilities, and will provide our organization with innovative capabilities and treatment options for our patients.

We are pleased to welcome Clemson University to Greenwood as the first academic partner on our Partnership Campus, added Dr. Steve Skinner, director of the Greenwood Genetic Center. This is the next great step in a collaboration that has been developing over the past 20-plus years. We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders.

END

Greenwood Genetic CenterThe Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.GGCs faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve.GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. For more information about GGC, please visitwww.ggc.org.

See more here:
Clemson Center for Human Genetics unveils new facility on Greenwood Genetic Center campus - Clemson Newsstand

Mirror.co.uk

Diabetes in your DNA? Scientists zero in on the genetic signature of risk Science Daily ... that increase risk of Type 2 diabetes appear to disrupt a common regulatory grammar in islet cells," says Stephen C.J. Parker, Ph.D., an assistant professor of computational medicine and bioinformatics, and of human genetics, at the U-M Medical School. Gene variants associated with body shape increase risk of heart disease, type 2 diabetesEurekAlert (press release) all 42 news articles »

See original here:
Diabetes in your DNA? Scientists zero in on the genetic signature of risk - Science Daily

Illustration: Angelica Alzona/Gizmodo

Recently, Vitaliy Husar received results from a DNA screening that changed his life. It wasnt a gene that suggested a high likelihood of cancer or a shocking revelation about his family tree. It was his diet. It was all wrong.

That was, at least, according to DNA Lifestyle Coach, a startup that offers consumers advice on diet, exercise and other aspects of daily life based on genetics alone. Husar, a 38-year-old telecom salesman, had spent most of his life eating the sort of Eastern European fare typical of his native Ukraine: lots of meat, potatoes, salt and saturated fats. DNA Lifestyle Coach suggested his body might appreciate a more Mediterranean diet instead.

They show you which genes are linked to what traits, and link you to the research, Husar told Gizmodo. There is science behind it.

DNA Lifestyle Coach isnt the only company hoping to turn our genetics into a lifestyle product. In the past decade, DNA sequencing has gotten really, really cheap, positioning genetics to become the next big consumer health craze. The sales pitcha roadmap for life encoded in your very own DNAcan be hard to resist. But scientists are skeptical that weve decrypted enough about the human genome to turn strings of As, Ts, Cs and Gs into useful personalized lifestyle advice.

Indeed, that lifestyle advice has a tendency to sound more like it was divined from a health-conscious oracle than from actual science. Take, for instance, DNA Lifestyle Coachs recommendation that one client drink 750ml of cloudy apple juice everyday to lose body fat.

Millions of people have had genotyping done, but few people have had their whole genome sequenced, Eric Topol, a geneticist at Scripps in San Diego, told Gizmodo. Most consumer DNA testing companies, like 23andMe, offer genotyping, which examines small snippets of DNA for well-studied variations. Genome sequencing, on the other hand, decodes a persons entire genetic makeup. In many cases, there just isnt enough science concerning the genes in question to accurately predict, say, whether you should steer clear of carbs.

We need billions of people to get their genome sequenced to be able to give people information like what kind of diet to follow, Topol said.

Husar stumbled upon the Kickstarter page for DNA Lifestyle Coach after getting his DNA tested via 23andMe a few years earlier. He wondered whether there was more information to be gleaned from his results. So six months ago, he downloaded his 23andMe data and uploaded it to DNA Lifestyle Coach. Each test costs between $60 and $70.

Im always looking for some ways to learn about my health, myself, my body, said Husar, who contributed to the companys Kickstarter back in 2015.

The advice he got back was incredibly specific. According to DNA Lifestyle Coach, he needed to start taking supplements of vitamins B12, D and E. He needed more iodine in his diet, and a lot less sodium. DNA Lifestyle Coach recommended that 55 percent of his fat consumption come from monounsaturated fats like olive oil, rather than the sunflower oil popular in Ukraine. Oh, and he needed to change his workout to focus more on endurance and less on speed and power.

He switched up his workout and his diet, and added vitamin supplements to his daily routine. The results, he found, were hard to dispute: He lost six pounds, and for the first time in memory didnt spend Kievs long harsh winter stuck with a bad case of the winter blues.

For now, DNA Lifestyle Coachs interpretation engine only offers consumers advice on diet and exercise, but in the coming months it plans to roll out genetics-based guidance on skin care, dental care and stress management. The company wants to tell you what SPF of sunscreen to use to decrease your risk of cancer, and which beauty products to use to delay the visible effects of aging. Its founders told Gizmodo that eventually they envision being able to offer their customers recipes for specific meals to whip up for dinner, optimized for their genetic makeup.

DNA Lifestyle Coach joins a growing list of technology companies attempting to spin DNA testing results into a must-have product. The DNA sequencing company Helix plans to launch an app store for genetics later this year. One of its partners is Vinome, a wine club that for $149 a quarter sends you wine selected based on your DNA. Orig3n offers genetics-based assessments of fitness, mental health, skin, nutrition and evenobviously unscientificwhich superpower you are most likely to have. The CEO of the health-focused Veritas Genetics told Gizmodo that the company hopes to create a Netflix for genetics, where consumers pay for a subscription to receive updated information on their genome for the rest of their life.

Its not going to happen overnight, but we believe that DNA will become an integrated part of everyday life, Helix co-founder Justin Kao told Gizmodo. The same way people use data to determine which movie to see or which restaurant to eat at, people will one day use their own DNA data to help guide everyday experiences.

Few would debate that our capability to decipher information from our genetic code is getting a lot more sophisticated. Just a decade ago, a bargain-basement deal on whole genome sequencing would run you $300,000. Recently, DNA sequencing company Illumina announced plans do it for just $100 within the next decade. Every day, researchers discover new links between our health, our environment, and our genetics.

But much of this research is still preliminary, and many of the studies are small. DNA Lifestyle Coachs advice to drink 750ml of cloudy apple juice for fat loss, for instance, stemmed from a study of just 68 non-smoking men. Those results, while promising, still require much larger studies to confirm. Suggesting that the same regiment might work for consumers is a little like reading the leaves at the bottom of a tea cupextracting meaning from patterns that arent necessarily there.

Not to mention that the information our genes offer up is probabilistic, not deterministic. You may have run into this if youve done an ancestry DNA test and received results indicating that your parents are only very likely your parents. More often than not, many genes contribute to a specific traitlike tasteand how those genes all interact is complex and poorly understood web. To complicate matters further, the expression of genes is often impacted by our behavior and the environment. If you have a gene that raises the risk for skin cancer, but live in overcast Seattle and dont ever go outside, your chances of getting cancer are probably slimmer than someone who lives in Los Angeles and spends every day in the sun without slapping on some sunblock.

DNA Lifestyle Coach, though, wants to offer its customers simple, actionable advice, and so omits all this confusing gray area from its results. Instead, the recommendations are clear and specific, from how much Vitamin A to take to how many cups of coffee a day are most beneficial. Its a bit reminiscent of a long-term weather forecast spitting out predictions for sunshine or rain 30 days in advanceyes, such predictions can be made, but most meteorologists will tell you theyre borderline useless.

We use a series of algorithms which rank studies by reliability of results, the company website explains. Studies are then analyzed for their relation to real-world dietary and nutritional needs, and the user is given straightforward recommendations.

Pressed on the questionable nature of that apple juice study, DNA Lifestyle Coachs founders responded that the data is not as strong as the the other studies it pulls from. But it is a harmless recommendation, the company said.

When asked whether it was possible that DNA Lifestyle Coachs claims might have any validity, Topol laughed.

One day, he said, its likely well have some genomic insight into what types of diets are better suited for certain people. But, he added, its unlikely that we will ever accurately predict the sort of granular details DNA Lifestyle Coach hopes to, like exactly what SPF of sunscreen you should be using on your skin.

There are limits, he said.

DNA Lifestyle Coach was founded by a chemist and a business consultant who met over an interest in the biohacker scene, a subculture focused on ideas like DIY life extension. The company that runs DNA Lifestyle Coach, Titanovo, actually started as a blog. The name is meant to invoke superhumans. Its like the rise of the titans, said Corey McCarren, the business side of the duo, when Gizmodo met with him at a health moonshots conference last month.

Their first foray into genetics was a home telomere length test, which launched in 2015 with help of $10,000 raised on Indiegogo. Telomeres are little bits of DNA at the end of chromosomes. Each time a cell divides, its telomeres get shorter, and so they provide some insight into our biological age. Titanovo wanted to develop an easy test to tell consumers how long or short their telomeres were. The company initially pitched the test as a way to measure both longevity and health, but eventually was forced to clarify for customers that it is not at present possible to discern biological age from telomeres alone, after receiving emails from customers panicked about their own short telomeres.

Instead, they suggest, the $150 telomere testing kit is a way to discern information about health. One finding from their data: vegetarians and vegans who use the service have, on average, longer telomeres. The company recommends going veg if you find your telomeres are in need of a boost. Even this, however, seems like a stretch: data on telomere length, like genomics, is not quite ready for public consumption. For every paper that finds a potential cause of telomere shorting, theres one that finds the opposite effect.

Undaunted by the rocky rollout of its telomere testing kit, Titanovo is now pressing forward into genomics. The Kickstarter campaign for DNA Lifestyle Coach wound up raising more than $30,000. The company says it now has more than 1,000 customers who either pay $215 for the full DNA testing kit along with one panel, or the $60 to $70 to run panels with data from services like 23andMe.

While it might seem harmless to take part in a little science-based superstition and find out whether youre more Batman or Superman, such indulgence can have serious side effects. For years, weve been sold on DNA as the answer to almost everything. Decode the human genome, and decode the mysteries of the human spirit. This gives companies like DNA Lifestyle Coach dangerous authority. If your DNA testing results say youre prone to obesity, why spend time exercising and eating right when your health seems beyond your control?

Joshua Knowles, a Stanford Cardiologist who studies applied genetics, told Gizmodo that he recently had a patient who was unwilling to try a certain class of drug based on their genotyping, even though they had a high risk of heart disease that might be drastically reduced by use of those medications.

Were doing a poor job of educating patients on risk-benefit analysis, Knowles said. In some cases, when it comes to genetics, were placing a lot of weight on some things that have very small overall effects.

In 2008, an European Journal of Human Geneticsarticleargued for better regulatory control of direct-to-consumer genetic testing, asking whether in the end, tests ran the risk of being little better than horoscopes that told people information they were already predisposed to believe.

It was these kinds of concerns that moved the Food and Drug Administration to crack down on 23andMe in 2013, ordering the company to cease providing analyses of peoples risk factors for disease until the tests accuracy could be validated. The company now provides assessments on a small fraction of 254 diseases and conditions it once scanned forit still processes the same information, but is restricted in what it can tell consumers. Where it once reported health risks alongside specific tips and guidance on how to reduce them, it now reports on your carrier status, framing the results in terms of whether you might pass down a specific genetic variant to your offspring rather that whether you might develop the condition yourself.

Companies like DNA Lifestyle Coach have moved in offer the sort of tips 23andMe no longer can.

We have much too many companies doing nutrigenomics and other unproven things like that, said Topol. That can give consumer genomics a really bad name. Thats unfortunate.

Kao, of Helix, said that educating consumers on what these results really mean alongside actionable information will be the industrys greatest challengeand what distinguishes it from just another pseudoscientific health fad.

Its typically been very hard to interpret DNA information, Kao said. DNA is most valuable with context, rather than as the only piece of the puzzle.

The industry, he argues, is young, but will get more accurate the more consumers use DNA-testing products. Just as Netflix improves the more you rate shows you watch, so would many DNA-based products, he said.

Husar told Gizmodo that he got blood work done to confirm what he could about his DNA Lifestyle Coach results. The tests indeed confirmed that he was low on vitamins B12, D and E, as DNA Lifestyle Coach had suggested. Of course, Hussar still cant be sure his genes are responsible. It could be that hes simply not eating enough meat or cheese. Still, the blood work was enough to convince Husar that DNA Lifestyle Coachs analysis was worth taking seriously. And, for the most part, the results felt rightit made sense that a boost of vitamin B12 might counteract the emotional toll of winter, and that cutting out potatoes and saturated fats might be benefical.

The testss fitness results though, he did find a tad shocking.

I was really surprised to learn that Im not fast or powerful, but I have a high endurance, he said. I can do Iron Man. This is what my genetics say. Im trying to change my workout to see if thats true.

Husar may never be sure whether the advice divined from his genetics was really helpful. He can only hope it doesnt hurt.

Read more from the original source:
The Next Pseudoscience Health Craze Is All About Genetics - Gizmodo

Thirty-three years ago, scientists knew the genomic location of exactly one disease-causing gene the gene that causes Huntingtons disease. But since that time, they have discovered thousands more disease-causing genes, as the field of human genomics has accelerated at a pace previously unimaginable, MIT Professor Eric Lander told a packed audience at yesterdays James R. Killian Jr. Faculty Achievement Award Lecture.

On any given day, you may be incredibly frustrated by how slow its going: Things are failing, youre not making progress. But over the course of years, decades, its stunning. For me, this is so much faster than I could have ever imagined. Thats whats so special about science, said Lander, an MIT professor of biology and the recipient of the 2016-2017 Killian Award.

Established in 1971 to honor MITs 10th president, James Killian, the Killian Award recognizes extraordinary professional achievements by an MIT faculty member. Lander was selected for the award for his own contributions to the rapid growth of human genomics, as well as his accomplishments in teaching and science policy. He is the president and founding director of the Broad Institute of MIT and Harvard, and also served as co-chair of the Presidents Council of Advisors on Science and Technology under President Barack Obama from 2009 to 2017.

Professor Landers contributions to science are deep and wide-ranging, including scientific discoveries, writing of crucial science policy, leadership in both the local and global research communities, and a long history of inspiring a love of biology in students, says the award citation, read by Krishna Rajagopal, chair of the MIT faculty, before yesterdays lecture.

Rajagopal paused for a serenade from the a cappella group the MIT Logarhythms, which performed a rendition of Signed, Sealed, Delivered (Im Yours) for a delighted Lander, who continued the Valentines Day theme with his lecture.

A love letter

Lander began his talk, which was held on Valentines Day, with a love letter to MIT and the lecture hall where he spoke, Room 10-250. That room played a key role in launching a career in human genetics that once seemed improbable for Lander, who earned his BA in mathematics from Princeton University in 1978 and his PhD in mathematics from Oxford University in 1981 as a Rhodes Scholar.

Some people have their careers planned out in advance, Lander said. That was not me. I knew I didnt want to do mathematics as a career, but I had no idea what I really wanted to do.

After earning his PhD, Lander taught managerial economics at Harvard Business School for a couple of years, but his heart wasnt in it. At the suggestion of his brother, Arthur, he started sitting in on neuroscience classes at Harvard, which eventually led him to a course in genetics, where he found his true love.

In 1984, he took a leave of absence from Harvard and began working on worm genetics in the lab of MIT Professor Robert Horvitz. One day in 1985, Professor Barbara Meyer, who had a lab next door, introduced him to David Botstein, another biology professor, who was trying to develop approaches to mapping human genetic diseases. That conversation, which Lander described as a key turning point in his life, took place outside Room 10-250.

I pretty much dropped everything else I was doing in the world in order to work on this idea of whether you could map genes in humans for complex traits, Lander recalled.

Lander was appointed to the faculty of MITs Department of Biology in 1990, and once again, Room 10-250 played a key role in his career as the place where he began co-teaching 7.01/7.012 (Introductory Biology), a course that he co-developed in 1991-1992 with Professor Emerita Nancy Hopkins. In recognition, Hopkins and Lander were named Class of 1960 Fellows for outstanding teaching and course development. Lander still teaches that course, although it has now moved to a larger lecture hall.

The gift of teaching is the gift of being re-inspired by young people every year, again and again. Teaching has been such an amazing part of my life at MIT. It is why were here, and Im enormously grateful for that opportunity, said Lander, who has also developed a popular edX version of Introductory Biology.

Lander also credited MIT, in particular former President Charles M. Vest and former Provost Robert Brown, for their roles in the founding of the Broad Institute, which opened in 2004 to build on the progress made by the Human Genome Project. Getting Harvard and MIT to join forces, along with several other Boston-area institutions, was not an easy task, he recalled.

MIT has a long history of being able to make the right thing happen, Lander said. Had it not been for MIT sticking with the idea from beginning to end, this could never have happened.

An adventure story

Lander described the arc of his career as a biological adventure story that demonstrates how much farther things can go than you could ever possibly imagine.

In 1985, when he began working with Botstein, only one human disease-causing gene, the Huntingtin gene, had been mapped to a specific chromosome. The location of the gene mutation that causes cystic fibrosis was also soon identified, but scientists were unsure whether they would ever be able to locate genes involved in complex disorders such as heart disease or Alzheimers disease, which are influenced by many genes.

A major step forward in being able to identify such genes occurred with the completion of the Human Genome Project, led by Lander and others, in 2003. That map has allowed scientists to identify 4,000 genes that cause disease on their own; it also gave scientists the opportunity to start discovering genes associated with multigene diseases.

As the cost of sequencing genomes came down (its now about $1,500 per genome), scientists were able to sequence thousands of genomes to identify common genetic variants that are linked to specific diseases. Using this approach, scientists, including many at the Broad Institute, have found 108 variants associated with schizophrenia, 200 associated with inflammatory bowel disease, and thousands more linked to other human disorders including heart disease and Alzheimers disease.

Its possible to dissect and find for a typical common disease 50, or 100, or 150 genes in the human genome that have an effect on that disease. That took, from a conversation in the hallway outside 10-250 in 1985, to somewhere around 2010, based on the whole scientific community working together. Its mind-blowing, Lander said. We never thought wed ever get to this point.

A trip report

Lander concluded his lecture with a trip report of the eight years that he served as a co-chair of the Presidents Council of Advisors on Science and Technology (PCAST).

During that time, the council wrote 38 reports on topics ranging from antibiotic resistance and the H1N1 flu outbreak, to advanced manufacturing and nanotechnology. Many of those reports have formed the basis of new executive orders or major policy initiatives.

Lander also noted that the very first iteration of PCAST, established in 1958 by President Dwight D. Eisenhower, was chaired by none other than James R. Killian Jr., who was then MITs president. During Landers tenure, the council included six MIT faculty, alumni, and Corporation members, demonstrating the important contribution that MIT continues to make in informing national policy, he said.

MIT has played such a major role over the course of decades in ensuring that science has its rightful place in society, Lander said. While MIT does not have politics, we do have values. Those include the power of knowledge and truth, and the power of diversity. That is what is powering science. This great institution has contributed so much to those principles, which have largely driven the economic growth, security, and health of this country. I have no doubt in the years ahead that those values will outlast anything.

View original post here:
Chronicling the rapid pace of genomics - MIT News

Editing human genes that would be passed on for generations could make sense if the diseases are serious and the right safeguards are in places, a scientific panel says.

Scientists could be allowed to make modifications in human DNA that can be passed down through subsequent generations, the National Academy of Sciences and the National Academy of Medicine say.

Such a groundbreaking step should only be considered after more research and then only be conducted under tight restrictions, the academies write in a highly anticipated report released Tuesday. Such work should be reserved to prevent serious diseases and disabilities, it says.

The academies determined that new gene-editing techniques had made it reasonable to pursue such controversial experiments down the road, though not quite yet.

"It is not ready now, but it might be safe enough to try in the future," R. Alta Charo, a bioethicist at the University of Wisconsin-Madison who co-chaired the committee, said. "And if certain conditions are met, it might be permissible to try it."

That conclusion counters a long-standing taboo on making changes in genes in human sperm, eggs or embryos because such alterations would be inherited by future generations. That taboo has been in place partly because of fears that mistakes could inadvertently create new diseases, which could then become a permanent part of the human gene pool.

Another concern is that this kind of genetic engineering could be used to make genetic modifications for nonmedical reasons.

For example, scientists could theoretically try to create designer babies, in which parents attempt to select the traits of their children to make them smarter, taller, better athletes or to have other supposedly superior attributes.

Nothing like that is currently possible. But even the prospect raises fears about scientists essentially changing the course of evolution and creating people who are considered genetically superior, conjuring up the kind of dystopian future described in movies and books like Aldous Huxley's Brave New World.

"These kinds of scenarios used to be science fiction; they used to be seen as far-off hypotheticals," says Marcy Darnovsky, who runs the Center for Genetics and Society, a genetic watchdog group. "But actually, right now, I think they're urgent social justice questions."

She says, "we're going to be creating a world in which the already privileged and affluent can use these high-tech procedures to make children who either have some biological advantages" or are perceived to have biological advantages. "And the scenario that plays out is not a pretty one."

But Charo says the report clearly states that any attempt to create babies from sperm, eggs or embryos that have had their DNA edited could only be tried someday under very tightly controlled conditions and only to prevent devastating medical disorders.

"We said, 'Use it for serious diseases and serious conditions only period,'" Charo says. "We simply said, 'No enhancement.' "

But Darnovsky is skeptical that line will hold. "I don't think there's any way to keep that genie in the bottle," he says.

The report, however, was praised by many scientists.

"It's important to be extraordinarily cautious on technologies that could leave a permanent mark on the human population for all generations to come," says Eric Lander, who runs the Broad Institute at the Massachusetts Institute of Technology and Harvard University. "But it's important to try to help people. I think they've been very thoughtful about how you should balance those things."

The report acknowledges that it may be difficult in the future to draw a line between using gene-editing to prevent or treat disease and using it for enhancement. Gene-editing designed to prevent or treat the muscle disease muscular dystrophy, for example, could theoretically be used to try to make healthy people stronger.

Prominent Harvard geneticist George Church agrees. "The report is very clearly broad," he says. "It could include a lot of things people consider enhancement. I think it will be case by case and there will be some people will be consider enhancement that some people will consider preventive medicine."

For example, if scientists figure out how to makes changes that boost thinking abilities to stave off dementia in Alzheimer's patients by making them slightly above average or considerably above average, he says, "that might be considered enhancement or it might be considered preventive medicine."

Scientists have been able to edit the DNA in the cells of humans and other creatures for decades. But the academies commissioned the report after scientists developed powerful new gene-editing techniques in recent years, such as CRISPR-Cas9, that make it much easier and faster.

That raised the possibility that gene editing might be used to treat many diseases and possibly even to prevent many devastating disorders from occurring in the first place by editing out genetic mutations in sperm, eggs and embryos. That could potentially prevent a wide range of diseases, including breast cancer, Tay-Sachs, sickle cell anemia, cystic fibrosis and Huntington's disease.

As a result, the academies assembled a 21-member committee of scientists, bioethicists, lawyers, patient advocates, biotech entrepreneurs and others to conduct a far-reaching investigation that involved more than year of study.

The resulting report stresses that because the technology is so new, it would be unsafe for anyone to even begin studies to try to create babies from sperm, eggs or embryos that have had their DNA edited before conducting much more research.

The committee also says no clinical trials of gene editing should be allow unless:

"It would be essential for this research to be approached with caution, and for it to proceed with broad public input," the 261-page report states.

The report notes that the Food and Drug Administration is barred from reviewing "research in which a human embryo is intentionally created or modified to include a heritable genetic modification." Federal funding of such research is also prohibited.

Many other countries have signed an international convention prohibiting this kind of gene editing.

But the report aims to provide guidance for those countries where it's not prohibited or in those where the prohibitions would be lifted. The FDA ban, for example, could expire or be reversed.

Go here to see the original:
Scientific Panel Says Editing Heritable Human Genes Could Be OK In The Future - NPR

Genetic analysis suggests that humans have continuously inhabited the Tibetan Plateau as far back as the last ice age.

The first humans who ventured onto the Tibetan Plateau, often called the roof of the world, faced one of the most brutal environments our species has ever confronted. At an average elevation of more than 4,500 meters, it is a cold and arid place with half the oxygen present at sea level. Although scientists had long thought no one set foot on the plateau until 15,000 years ago, new genetic and archaeological data indicate that this event may have taken place much earlierpossibly as far back as 62,000 years ago, in the middle of the last ice age. A better understanding of the history of migration and population growth in the region could help unravel the mysteries of Tibetans' origin and offer clues as to how humans have adapted to low-oxygen conditions at high altitudes.

As reported in a recent study in the American Journal of Human Genetics, researchers got a better grasp of the plateau's settlement history by sequencing the entire genomes of 38 ethnic Tibetans and comparing the results with the genomic sequences of other ethnic groups. It has revealed a complex patchwork of prehistoric migration, says Shuhua Xu, a population geneticist at the Chinese Academy of Sciences' Shanghai Institutes for Biological Sciences. A big surprise was the antiquity of Tibetan-specific DNA sequences, Xu says. They can be traced back to ancestors 62,000 to 38,000 years ago, possibly representing the earliest colonization of the plateau.

As an ice age tightened its grip after that first migration, genetic mixing between Tibetans and non-Tibetans ground to a halt for tens of thousands of yearssuggesting that movement into Tibet dropped to a minimum. The migration routes were probably cut off by ice sheets, Xu says. It was simply too harsh even for the toughest hunter-gatherers. But about 15,000 to 9,000 years agoafter the so-called last glacial maximum (LGM), when the ice age was at its harshest and Earth's ice cover had reached its peakthousands flocked to Tibet en masse. It's the most significant wave of migration that shaped the modern Tibetan gene pool, Xu says. This meshes well with several independent lines of evidence showing that Tibetans began to acquire genetic mutations that protected them from hypoxia 12,800 to 8,000 years ago.

Xu's team was the first to sequence the entire Tibetan genome, and the resolution is really impressive, says archaeologist Mark Aldenderfer of the University of California, Merced, who was not involved in the research. The study, he adds, provides fine details of how different populations from various directions may have combined their genes to ultimately create the people that we call Tibetans. It shows that 94 percent of the present-day Tibetan genetic makeup came from modern humanspossibly those who ventured into Tibet in the second wave of migrationand the rest came from extinct hominins. The modern part of the Tibetan genome reflects a mixed genetic heritage, sharing 82 percent similarity with East Asians, 11 percent with Central Asians and 6 percent with South Asians.

In addition, Xu's team identified a Tibetan-specific DNA segment that is highly homologous to the genome of the Ust'-lshim Man (modern humans living in Siberia 45,000 years ago) and several extinct human species, including Neandertals, Denisovans and unknown groups. The segment contains eight genes, one of which is known to be crucial for high-altitude adaptation. Xu suspects that a hybrid of all these species may have been the common ancestor of the pre-LGM population on the plateau.

The study also reveals a startling genetic continuity since the plateau was first colonized. This suggests that Tibet has always been populatedeven during the toughest times as far as climate was concerned, Xu says. That idea contradicts the commonly held notion that early plateau dwellers would have been eliminated during harsh climate intervals, including the LGM, says David Zhang, a geographer at the University of Hong Kong, who was not involved in Xu's work. Aldenderfer and others contend that parts of the plateau could have provided a refuge for people to survive the ice age. There were plenty of places for [those early populations] to live where local conditions weren't that bad, such as the big river valleys on the plateau, he says.

Also supporting the antiquity of the peopling of Tibet is a study presented at the 33rd International Geographical Congress last summer in Beijing, where a team unveiled the plateau's earliest archaeological evidence of human presencedating to 39,000 to 31,000 years ago. The site, rich with stone tools and animal remains, lies on the bank of the Salween River in the southeastern Tibetan Plateau.

Different lines of evidence are now converging to point to much earlier and much more persistent human occupation of the plateau than previously thought, Aldenderfer says. But he notes that pieces are still missing from the puzzle: More excavations are required to close those gaps.

Read the original here:
The Surprisingly Early Settlement of the Tibetan Plateau - Scientific American

Scientists have long observed important differences in the rate of disease progression among individuals infected with HIV. It is now well established that the disease progresses faster in people with a higher viral load the amount of genetic material from the virus found in their blood.

[This study]is the first to investigate the relative impacts of human and viral genetics on viral load, within one group of patients.

[The researchers]found that genetic differences between HIV strains accounted for 29% of the contrasts in viral load between patients. Human genetic variation on the other hand, explains 8.4%. Together, human and viral genetics explained a third of viral load variation.

These findings suggest that the patients genetics trigger genetic mutations in the HIV virus as it multiplies inside them, thus influencing the clinical course of HIV infection.

Our study improves our understanding of HIV pathogenesis. This is an important step the better you know your enemy, the more equipped you are to fight it and fight against the disease, said [Jacques Fellay, director of the study bycole Polytechnique Fdrale de Lausanne in Switzerland.]

[The study can be found here.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Patients and virus genetics account for a third of HIV viral load

Here is the original post:
Progression of HIV triggered by each patient's genes - Genetic Literacy Project