Brain development linked to stimulation of genetic variations – Medical Xpress

July 31, 2017 Credit: Wikimedia Commons

Scientists in the UK and India have discovered more evidence that positive stimuli in early childhood can benefit the infant brain.

A comparative study of genetic variations between two parts of the brain found evidence for progressive variations in the brain's genome benefitting physiological development.

And they believe such variations may be linked to the level of brain activity determined by so-called 'nurture' factors, which are environmental rather than hereditary.

"The implication is that early life positive experiences can stimulate cognitive activities and will favour such 'beneficial' variations, whereas, negative experiences or lack of cognitive stimulation can reduce the genomic diversity resulting in limiting brain capacity," said Dr Arijit Mukhopadhyay, a researcher in human genetics and genomics at the University of Salford.

It is one of the first studies to show the effect of brain activity on genomic changes, and is published in F1000 Research, Dr Mukhopadhyay and colleagues from CSIR-Institute of Genomics & Integrative Biology, Delhi.

Dr Mukhopadhyay explains: "It is generally assumed that as we inherit our genetic blueprint (DNA) from our parents, we also inherit the genetic variations alongside. While this is largely true, this research along with other reports in the recent literature shows that some variations termed de novo somatic variations - occur as a normal process and are added to diversify our genetic repertoire.

The team collected two different parts of the human brain, frontal cortex and corpus callosum from multiple individuals, post-mortem, from the Brain Bank, (the individuals died due to road accidents without any known disease.)

The researchers extracted DNA from the tissue and performed state-of-the-art genomic sequencing to identify genetic variations between the two. The study found a higher number of possibly 'beneficial' variations in the cortex compared to the corpus callosum of the same individuals.

Dr Mukhopadhyay said: "This finding is an important step in our understanding of early brain development and of how local genetic variations can occur and shape our physiology.

"It is likely that genetic variations beyond those we inherit are important for our ability to adapt and evolve locally for specific organs and tissues.

"We believe our results indicate that such physiology driven genetic changes have a positive influence on the development of the neuronal connectivity early in life."

Explore further: Lack of 'editing' in brain molecules potential driver of cancer

More information: Anchal Sharma et al. Human brain harbors single nucleotide somatic variations in functionally relevant genes possibly mediated by oxidative stress, F1000Research (2016). DOI: 10.12688/f1000research.9495.1

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Brain development linked to stimulation of genetic variations - Medical Xpress

Rare whole genome duplication during spider evolution could … – Phys.Org

July 31, 2017 Credit: CC0 Public Domain

In collaboration with scientists from the U.K., Europe, Japan and the United States, researchers at the Human Genome Sequencing Center at Baylor College of Medicine have discovered a whole genome duplication during the evolution of spiders and scorpions. The study appears in BMC Biology.

Researchers have long been studying spiders and scorpions for both applied reasons, such as studying venom components for pharmaceuticals and silks for materials science, and for basic questions such as the reasons for the evolution and to understand the development and ecological success of this diverse group of carnivorous organisms.

As part of a pilot project for the i5K, a project to study the genomes of 5,000 arthropod species, the Human Genome Sequencing Center analyzed the genome of the house spider Parasteatoda tepidariorum a model species studied in laboratories and the Arizona bark scorpion Centruroides sculpturatus, the most venomous scorpion in North America.

Analysis of these genomes revealed that spiders and scorpions evolved from a shared ancestor more than 400 million years ago, which made new copies of all of the genes in its genome, a process called whole genome duplication. Such an event is one of the largest evolutionary changes that can happen to a genome and is relatively rare during animal evolution.

Dr. Stephen Richards, associate professor in the Human Genome Sequencing Center, who led the genome sequencing at Baylor, said, "It is tremendously exciting to see rapid progress in our molecular understanding of a species that we coexist with on planet earth. Spider genome analysis is particularly tricky, and we believe this is one of the highest quality spider genomes to date."

Similarly, there also have been two whole genome duplications at the origin of vertebrates, fuelling long-standing debate as to whether the duplicated genes enabled new biological complexity in the evolution of the vertebrate lineage leading to mammals. The new finding of a whole genome duplication in spiders and scorpions therefore provides a valuable comparison to the events in vertebrates and could help reveal genes and processes that have been important to our own evolution.

"While most of the new genetic material generated by whole genome duplication is subsequently lost, some of the new gene copies can evolve new functions and may contribute to the diversification of shape, size, physiology and behavior of animals," said Dr. Alistair McGregor, professor of evolutionary developmental biology at Oxford Brookes University and lead author of the research. "Comparing the whole genome duplication in spiders and scorpions with the independent events in vertebrates reveals a striking similarity. In both cases, duplicated clusters of Hox genes have been retained. These are very important genes that regulate development of body structures in all animals, and therefore can cause evolutionary changes in animal body plans."

The study also found that the copies of spider Hox genes show differences in when and where they are expressed, suggesting they have evolved new functions.

McGregor explains that these changes may help clarify the evolutionary innovations in spiders and scorpions including specialized limbs and how they breathe, as well as the production of different types of venom and silk, which spiders use to capture and kill their prey.

"Many people fear spiders and scorpions, but this research shows what a beautiful part of the evolutionary tree they represent," said Dr. Richard Gibbs, director of the Human Genome Sequencing Center and the Wofford Cain Chair and professor of molecular and human genetics at Baylor.

"Costs have now dropped rapidly enough from tens of millions of dollars to merely a few thousand dollars for this genomic analyses to now be performed on any species," Richards said. "There is still so much more to learn about the life on earth around us, and I believe this result is just the beginning of understanding the molecular make up of spiders."

Explore further: Flowers' genome duplication contributes to their spectacular diversity

More information: Evelyn E. Schwager et al. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution, BMC Biology (2017). DOI: 10.1186/s12915-017-0399-x

Scientists at the University of Bristol have shed new light on the evolution of flowers in research published today in the Royal Society journal Proceedings of the Royal Society B.

New biological information gleaned from the red vizcacha rat, a native species of Argentina, demonstrates how genomes can rapidly change in size.

According to the '2R hypothesis', the evolution of modern vertebrates was propelled forward in part by two events in our early ancestry in which the entire genome was duplicated. These events, known as 1R and 2R, yielded ...

Spider silks, the stuff of spider webs, are a materials engineer's dream: they can be stronger than steel at a mere fraction of weight, and also can be tougher and more flexible. Spider silks also tend not to provoke the ...

Sequencing and comparative analysis of the genome of the Western Orchard predatory mite has revealed intriguingly-extreme genomic evolutionary dynamics through an international research effort co-led by scientists from the ...

For decades, the story of spider evolution went like this: As insects became more and more diverse, with some species taking to the skies, spiders evolved new hunting strategies, including the ability to weave orb-shaped ...

Evolution doesn't have to take millions of years. New research shows that a type of lizard living on man-made islands in Brazil has developed a larger head than its mainland cousins in a period of only 15 years.

Noise from motorboats changes the behaviour of cleaner fish and the species they help.

Honey bees that consistently fail to respond to obvious social cues share something fundamental with autistic humans, researchers report in a new study. Genes most closely associated with autism spectrum disorders in humans ...

The announcement by researchers in Portland, Oregon that they've successfully modified the genetic material of a human embryo took some people by surprise.

A new technique developed by scientists at the New York Genome Center (NYGC) represents an important step forward for single-cell RNA sequencing, an advancing field of genomics that provides detailed insights into individual ...

Throughout nature, moms engage in a trade-off: Churn out a bevy of offspring and hope for the best, or have fewer kids but invest more in their survival. Trinidadian guppies provide a model example of this pervasive parenting ...

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The Era of Human Gene Editing Is HereWhat Happens Next Is Critical – Singularity Hub

Scientists in Portland, Ore., just succeeded in creating the first genetically modified human embryo in the United States, according toTechnology Review. Ateam led by Shoukhrat Mitalipov ofOregon Health & Science Universityis reported to have broken new ground both in the number of embryos experimented upon and by demonstrating that it is possible to safely and efficiently correct defective genes that cause inherited diseases.

The U.S. teamsresults follow two trialsone last year and one in Aprilby researchers in Chinawho injected genetically modified cells into cancer patients.Theresearch teamsused CRISPR, a new gene-editing system derived from bacteria thatenables scientists to editthe DNA of living organisms.

The era of human gene editing has begun.

In the short term, scientists are planning clinical trials to use CRISPR to edit human genes linked to cystic fibrosis and other fatal hereditary conditions. But supporters of synthetic biology talk up huge potential long-term benefits. We could, they claim, potentially edit genes and build new ones to eradicate all hereditary diseases. With genetic alterations, we might be able to withstand anthrax attacks or epidemics of pneumonic plague. We might revive extinct species such as the woolly mammoth. We might design plants that are far more nutritious, hardy, and delicious than what we have now.

But developments in gene editing are alsohighlighting a desperate need for ethical and legal guidelines to regulate in vitro genetic editingand raising concerns about a future in which the well-off couldpay for CRISPR to perfect their offspring. We will soon be faced with very difficult decisions aboutwhen and how to use this breakthrough medical technology.For example, if your unborn child were going to have a debilitating disease that you could fix by taking a pill to edit theirgenome, would you take the pill? How about adding some bonusintelligence? Greater height or strength? Where would you draw the line?

CRISPRs potential for misuse by changinginherited human traits has prompted some genetic researchersto call fora global moratoriumon usingthe techniqueto modify human embryos. Such use is a criminal offense in 29 countries, and the United States bans the use of federal funds to modify embryos.

Still, CRISPRs seductiveness is beginning to overtake the calls forcaution.

In February, an advisory body fromthe National Academy of Sciences announcedthe academys support for usingCRISPR to edit the genes of embryos to remove DNA sequences that doctors saycause serious heritable diseases. The recommendation came with significant caveats and suggested limiting the use of CRISPR to specific embryonic problems. That said, the recommendation is clearly an endorsement of CRISPR as a research tool that is likely to become a clinical treatmenta step from which therewill be no turning back.

CRISPRs combination of usability, low cost, and power is both tantalizing and frightening, with the potential tosomeday enableanyone to edit a living creature on the cheap in their basements. So, although scientists might use CRISPR to eradicate malaria by making the mosquitoes that carry it infertile, bioterrorists could use it to create horrific pathogens that could kill tens of millions of people.

With the source code of life now so easy to hack, and biologists and the medical world ready to embrace its possibilities, how do we ensure the responsible use of CRISPR?

Theres a line that A Prairie Home Companion host Garrison Keillor uses whendescribing the fictional town of Lake Wobegon, whereall the children are above average. Will we enter a time when those who can afford a better genome will live far longer, healthier lives than those who cannot? Should the U.S. government subsidize genetic improvements to ensure a level playing field when the rich have access to the best genetics that money can buy and the rest of society does not? And what if CRISPR introduces traits into the human germ line with unforeseen consequencesperhaps higher rates of cardiac arrest or schizophrenia?

Barriers to mass use of CRISPR are already falling.Dog breeders looking to improve breedssuffering from debilitating maladies are actively pursuing gene hacking. A former NASA fellow in synthetic biology now sells functional bacterial engineering CRISPR kits for $150 from his online store. Its not hard to imagine a future in which the big drugstore chains carry CRISPR kits for home testing and genetic engineering.

The release ofgenetically modified organismsinto the wildin the past few years has raised considerable ethical and scientific questions. The potential consequences of releasing genetically crippled mosquitoes in the southern United States to reduce transmission of tropical viruses, for instance, drew a firestorm of concern over the effects on humans and the environment.

So, while the prospect of altering the genes of peoplemodern-day eugenicshas caused a schism in the science community, research with precisely that aim is happening all over the world.

We have arrived at a Rubicon. Humans are on the verge of finally being able to modify their own evolution. The question is whether they can use this newfound superpower in a responsible way that will benefit theplanet and its people. And a decision so momentous cannot be left to the doctors, the experts, orthe bureaucrats.

Failing to figure out how to ensure that everyonewill benefit from this breakthroughrisks the creation of a genetic underclasswho must struggle to compete with the genetically modified offspring of the rich. Andfailing to monitor and contain how we use itmay spell global catastrophe. Its up to us collectively to get this right.

This article was originally published byThe Washington Post. Read theoriginal article.

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The Era of Human Gene Editing Is HereWhat Happens Next Is Critical - Singularity Hub

Sophie Aroesty – Tablet Magazine

Just when you thought you knew the whole action-packed thriller about the Jews meandering through the desert for forty years, we get a sequel: Return of The Canaanites is coming to a scientific journal near you. The Torah tells us that the enemies of ancient Israelites were destroyed by God, but they may have survived after all. And theyre apparently living in Lebanon.

The American Journal of Human Genetics recently published a study sequencing genomes from ancient Canaanites and modern day Lebanese, finding a direct link. The similarity between the sequences has them believe that Canaanites are their direct ancestors.

The scientists sequenced the DNA of five, almost 4,000 year-old Canaanites from the city now known as Sidon in Lebanon. They also sequenced the genomes of 99 present-day Lebanese. The similarity between the sequences suggests that there has been substantial genetic continuity in the region since at least the Bronze Agea conclusion that agrees with the archaeological record, reports Science Daily.

We found that the Canaanites were a mixture of local people who settled in farming villages during the Neolithic period and eastern migrants who arrived in the region about 5,000 years ago, said Marc Haber of The Wellcome Trust Sanger Institute in the United Kingdom. The present-day Lebanese are likely to be direct descendants of the Canaanites, but they have in addition a small proportion of Eurasian ancestry that may have arrived via conquests by distant populations such as the Assyrians, Persians, or Macedonians.

Robert Alter, a scholar, critic, and translator of biblical texts, had already floated a theory that dealt with this emerging discrepancy between Jewish texts and science. He believed that the line in Chukat that says the Canaanites were destroyed shouldnt be taken literally. Rather, the ethnic group was destroyed as a threat because they assimilated. He points to evidence that suggests the Canaanites lived on, such as a leader of the Israelites known as Gideon in the Book of Judges. He had previously been referred to as Jerubaal, which is clearly Canaanite. He thinks that the text invents an etymology for his name to minimize the actual scandalous backstory of the Jewish hero.

Of course, not every Canaanite was a Jewish hero. In parshat Shalach in the book of Exodus, the Canaanites are painted as terrifying giants. Moses sent twelve spies to check out the land promised to the Israelites by God and the people taking up residence there. The spies reported back that the land is flowing with milk and honey, but that theres no way their small numbers can take down these gargantuans. For their faithlessness, God punished the Israelites, making them wander in the desert for 40 years. And this punishment is fittingly one of the reasons we fast on Tisha Bav.

We didnt need a trailer for this sequel to know that the warring between these descendants of Canaanites and the Jewish people has gone on and on and on. Weve seen everything from literal wars to metaphorical wars over movies. So if you dig the whole Israelites-vs.-Canaanites saga, dont worry: This franchise isnt ending any time soon.

Sophie Aroesty is an editorial intern at Tablet.

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Gene editing star Jennifer Doudna calls for public debate on field’s benefits and risks – The San Diego Union-Tribune

After Jennifer Doudna and other scientists improved the technology known as CRISPR to edit human genomes, a long-awaited, and sometimes feared, milestone arrived.

For the first time in human existence, it became practical to change genes throughout the entire human genome with high precision and accuracy. And today, a decade after the introduction of CRISPR, its newly apparent that such manipulations have been made to human embryos a feat achieved by scientists at the Salk Institute in La Jolla and elsewhere.

Tinkering with genetics, a system that has been produced through billions of years of evolution, takes humanity into unknown territory. This powerful technology can be used for many purposes, not just stopping disease. Alterations in an embryos edited genome would be passed along to generations of descendants for good or ill.

Doudna, a UC Berkeley molecular biologist, said during a visit to San Diego this week that society needs to catch up to this potentially world-transforming field of science. She has co-authored a book, A Crack in Creation, on the benefits, perils and ethics of what scientists call germline editing.

The question will be as the technology comes to fruition ... should we use it in (this or) that fashion? Doudna said in a Monday interview at the American Association for Clinical Chemistrys scientific meeting in San Diego.

Its a question that has many facets to it, she said. Who decides who gets access, who pays for it and under what circumstances should that type of editing be done? These are important questions because the technology is already at the point where its possible to do this.

Her points were underscored by reports last week of a germline-editing study performed by a team in the United States (including the Salk researchers), China and Korea. The report showed that CRISPR could be used to repair a genetic defect in single-celled human embryos. The embryos were not allowed to develop beyond a few days.

This project received private funding, allowing it to sidestep government restrictions on such genetic editing.

The study was leaked to a British reporter and hasnt been published yet.

Doudna said she wasnt cognizant of the ethical issues when she and collaborator Emmanuelle Charpentier began exploring CRISPR.

Beyond the call for society to grapple with the ramifications of germline editing, Doudna said, its difficult to get more specific, except to exercise general caution.

In many cases, genetic defects dont even need to be repaired if multiple embryos are being generated, she said. These embryos could simply be screened for genetic defects, and a healthy embryo would be chosen.

In my opinion, we still need to respect the recommendations in the (National Academy of Sciences) report published in February that recommended refraining from clinical use of human germline editing until and unless theres broad societal consensus about the value, Doudna said.

The report available at j.mp/nasgene doesnt actually spell out how the technology should be used; it merely suggests a method for making decisions, Doudna said.

The challenge is how to actually implement discussions that might lead to a broad societal consensus. The debate is still out on how we might proceed.

International scientific organizations, leading research and medical groups in the United States, the Trump administration and others have neither taken the lead nor been able to unify the wide spectrum of parties to arrive at a joint set of standards.

Amid the political, ethical and cultural questions, Doudna emphasized that CRISPR also might transform human suffering by treating or even eradicating various diseases. The method can do so by altering the genome of non-reproductive cells, and these changes wouldnt get transferred to the next generation.

It's important to for people to appreciate that this is a powerful technology that has the potential to do a lot of good, to solve real-world problems not only in clinical medicine but also in agriculture and synthetic biology, Doudna said.

Untold millions of years ago, Mother Nature invented genetic editing.

Bacteria use CRISPR short for Clustered Regularly Interspaced Short Palindromic Repeats to fight viral infections.

The system contains an RNA sequence that can locate a complementary DNA sequence, along with an enzyme called Cas that acts as molecular scissors to cut up the DNA. The RNA matches sequences from previous infections, which the bacteria capture and incorporate into the CRISPR system.

Humans entered the picture when they realized that the RNA sequence could be swapped out with other sequences specifying various DNA segments of interest. This approach could be used to chop up a defective sequence.

Doudna said her lab is exploring genetic editing to treat diseases of the brain. This endeavor is strictly in the research stage, and much more testing will be needed before it can be considered for testing in people.

I think were still years away from having a clinical application, especially for things like Huntingtons disease, Doudna said.

In the end, she said, its important for the public to understand that all the good CRISPR might produce has emerged from basic research.

It really came about from fundamental science that was going on in international collaboration, that led to an understanding of a system that could be harnessed as a tool for gene editing, Doudna said. The value of fundamental research is really underscored when you look at what can happen when scientists are allowed to do creative work that is not applied in a particular direction.

bradley.fikes@sduniontribune.com

(619) 293-1020

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Gene editing star Jennifer Doudna calls for public debate on field's benefits and risks - The San Diego Union-Tribune

Could Science Challenge Our Human Right to be Ourselves? – Lady Freethinker

What is normal? It is probably impossible for us to define what is a normal, healthy, human being. Humans naturally vary and we naturally group, but who is to say that the largest group, whatever that may be, is defined as normal?

Recently, New Scientist magazine published an ethics issue, and two of these ethical questions for 21st century science revolved around human normality. The first looked at pre-embryo genetic modifications and the second about drug-induced normality. Both of these raise profound moral issues and not least the boundary between needing intervention and just being different; our very basic human right to be ourselves.

There is a growing belief that the allowing of a 3-parent baby in the UK will be the beginning point for genetic modification. However, selection has been with us since the beginning of existence, and indeed, selection based on religion, race, ethnicity, appearance, and gender do happen even though the latter is supposed to be illegal in most countries.

Where science is changing things is pre-natal screenings, such as those designed to find downs syndrome or other severe genetic issues. There is a moral question here as to whether its the human right of a downs baby to live. Yet science is going deeper than that. CRISPR is a genome-editing method which is being touted as a means of fixing certain genetic issues and some of these are natural paraplegia, blindness, and deafness.

Few could argue against there, but a moral framework is going to have to be developed. Kiruna Stamell is worried that dwarfism might make the list of changeable genetics. Then my husband pointed out that families especially in America are desperate to get rid of autism (he is on the spectrum), and a gay friend of mine pointed me to an article in Scientific American which examines changes to the Xq28 region of the X chromosome, which might indicate homosexuality in men.

Take those three things and there is potential for prenatal modification of perfectly healthy babies to suit a version of the parents idea of normality.

For those who have been born the way they are or who have had their brain functions altered in some way, be it environmental or due to trauma, should they be re-programmed chemically? Again, this has been around for quite a while. There has been outrage regarding attempts to shock or drug homosexuals into being straight, but the same was also done to those on the autism spectrum who were treated as insane.

Psychoactive drugs have been around for a long time just ask an anthropologist or archeologist about shamanic rituals. However, more recently its become an essential part of American treatment programs for mental health issues. This has lately seeped into means of improving brain function via drugs known as nootropics. They are most commonly found in the treatment of ADHD, but also as one of many ways to improve brain function while studying.

New Scientist posited that drugs could be used to make people more empathetic, improve moral reasoning, increase concentration, remove depression and manipulate thought patterns. The first of these is exceptionally morally dubious because in the case of people on the autism spectrum its been proven that just because neurotypicals do not see empathy in people on the spectrum does not mean its not there quite the opposite.

In short, society is going to have to start defining what is moral and what is not with technology and pharmacology. If we do not, the progress made so far in trying to find acceptance for difference will be reversed and then some. We are going to have to accurately define what it is to be human and find global acceptance for it.

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Could Science Challenge Our Human Right to be Ourselves? - Lady Freethinker

History News of the Week: The Biblical Canaanites’ Modern Descendants – New Historian

The biggest history news stories of the week, including two pioneering genome studies that have shed fascinating new light on humanitys ancient past and its echoes in the present.

Present day Lebanese are descendants of Biblical Canaanites

A new genome study of ancient remains from the Near East suggests that present day Lebanese people are direct descendants of the Biblical Canaanites.

The research, which has been published in the American Journal of Human Genetics, sequenced the entire genomes of 4,000 year-old Canaanites who inhabited the region during the Bronze Age, and compared them to other ancient and present day populations.

Despite the Canaanites creating the first alphabet and establishing colonies throughout the Mediterranean, historians and archaeologists only have a limited knowledge of them. They are mentioned several times in the Bible, as well as in ancient Greek and Phoenician texts, but experts know little about their genetic identity, who their ancestors were, and if they have any descendants today.

The study by the researchers from the Wellcome Trust Sanger Institute determined that more than 90% of present Lebanese ancestry is likely to be from the Canaanites, with a small proportion coming from a different Eurasian population. The researchers estimate that new Eurasian people mixed with the Canaanite population about 2,200 to 3,800 years ago at a time when there were many conquests of the region from outside.

Details about the Canaanites own ancestry have also been revealed. The study claims that they were a mixture of local people who settled in farming villages during the Neolithic period and eastern migrants who arrived in the area around 5,000 years ago.

For the first time we have genetic evidence for substantial continuity in the region, from the Bronze Age Canaanite population through to the present day. Dr Claude Doumet-Serhal, co-author of the study and Director of the Sidon excavation site in Lebanon, said.

These results agree with the continuity seen by archaeologists. Collaborations between archaeologists and geneticists greatly enrich both fields of study and can answer questions about ancestry in ways that experts in neither field can answer alone.

Meanwhile, Dr. Chris Tyler-Smith, lead author from the Wellcome Trust Sanger Institute, said: Genetic studies using ancient DNA can expand our understanding of history, and answer questions about the likely origins and descendants of enigmatic populations like the Canaanites, who left few written records themselves.

Now we would like to investigate the earlier and later genetic history of the Near East, and how it relates to the surrounding regions.

Bronze Age Iberia spared the brunt of Steppe invaders

New DNA analysis of people who lived in the Iberian Peninsula during the Bronze Age has revealed that they received only minor genetic input from Steppe invaders, suggesting the Steppe migrations played less of a role in the cultural and genetic makeup of Iberian people than they did in populations elsewhere in Europe.

Between the Middle Neolithic (4200-3500 BCE) and the Middle Bronze Age (1740-1430 BCE), Central, Northwestern and Northern Europe received a massive influx of people from the Steppe regions of Eastern Europe and Asia. Archaeological digs have gained insights into some of the impacts of these influxes on Iberia, in the form of changing cultural practices and funeral rituals, but the genetic effect has remained hitherto unexamined.

The genomes of fourteen people who lived in Portugal in the Neolithic and Bronze Age were sequenced for the study, which has been published in the journal PLOS Genetics. These genomes were then compared with other ancient and modern genetic data, revealing only subtle changes between the Portuguese Neolithic and Bronze Age DNA, suggesting a minor genetic influence from the Steppe. Surprisingly, the changes were significantly more pronounced in paternal lineage.

It was surprising to observe such a striking Y chromosome discontinuity between the Neolithic and the Bronze Age, such as would be consistent with a predominantly male-mediated genetic influx says first author Rui Martiniano. Height was also estimated from the samples, based on relevant DNA sequences, revealing that genetic input from Neolithic migrants decreased the height of Europeans, which subsequently increased steadily through later generations.

By showing that migration into the Iberian Peninsula occurred on a much smaller scale than elsewhere in Europe, the study raises questions about the impact this had on language, culture and technology. For example, the fact that the Basque region of Spain speaks a pre-Indo-European language could be explained by these findings. The discovery also supports a theory which says Indo-European languages spread through Europe from the Steppe heartland.

The study was carried out by Daniel Bradley and Rui Martiniano of Trinity College Dublin, in Ireland, and Ana Maria Silva of University of Coimbra, Portugal.

New project aims to highlight importance of The Indian Army in the First World War

In the UK, The Soldiers of Oxfordshire (SOFO) Museum and Oxford Universitys History Faculty have received a 12,000 grant from the Arts & Humanities Research Council Voices of War & Peace WWI Engagement Centre, for their project titled: The Indian Army in the First World War: An Oxfordshire & Buckinghamshire Perspective.

The project aims to shed new light on the British Indian Armys role in the war on the Eastern Front in Iraq through an outreach programme and touring exhibition. Sikhs, Muslims and Hindus of all ages in the local community are being called upon to engage with researchers by sharing stories, experiences and memorabilia. The touring exhibition will then showcase the findings in November.

Photographs that have never been displayed before will explore the experiences of British and Indian soldiers in the conflict, as well as the Iraqi prisoners.

Featured image: Archaeological remains of individual MC337 excavated from the site of Hipogeu de Monte Canelas I, Portugal, and analysed by the archaeologist Rui Parreira and the anthropologist Ana Maria Silva. Courtesy of Rui Parreira

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History News of the Week: The Biblical Canaanites' Modern Descendants - New Historian

Report: Scientists edit human embryos for first time in US – CNN

Shoukhrat Mitalipov, director of the Oregon Health & Science University's Center for Embryonic Cell and Gene Therapy, reportedly led the new research. Mitalipov and the university would not confirm details of the research to CNN.

"Results of the peer-reviewed study are expected to be published soon in a scientific journal. No further information will be provided before then," according to an emailed statement from the university's press office. Another researcher cited in the MIT report, the Salk Institute's Jun Wu, did not reply to CNN's request for comment.

Mitalipov also declined to comment in the MIT Technology Review report, referencing that the research results have not been published yet in a peer-reviewed scientific journal, which is considered the gold standard for scientific research. The author of the MIT report would not confirm to CNN whether he had seen the paper.

The MIT Technology Review reported that the researchers in Portland, Oregon, edited the DNA of a large number of one-cell embryos, specifically targeting genes associated with inherited diseases in those embryos. The MIT Technology Review could not determine which disease genes had been chosen for editing in the new research.

"I'm not surprised that they were looking at genetic diseases to try and see if they could target them, because that's exactly where I think the future inevitably leads," said Arthur Caplan, a professor and founding head of the division of bioethics at New York University Langone Medical Center, who was not involved in the research.

When it comes to the new research, "my reaction was, this is an interesting incremental step, and boy, I bet it's going to get blown up as being more important than it is," said Hank Greely, professor of law and genetics at Stanford University, who was not involved in the research.

"It's not the first time anybody has CRISPR-ed human embryos. It's not the first time anybody's CRISPR-ed viable human embryos. It's certainly not the first time people have CRISPR-ed viable mammalian embryos," Greely said. "It's the first time it's been done in the US, but the embryos don't care where they are."

Yet the research has already generated attention and controversy.

"This is pushing the research faster than I thought we would see," said Dana Carroll, professor of biochemistry at the University of Utah, if the MIT Technology Review report rings true. Carroll has used CRISPR in his own studies, but was not involved in the new research.

He pointed out that the new research reportedly involved earlier, more delicate embryos, and CRISPR reportedly was still demonstrated as efficient.

"From the perspective of research that would ultimately make germline editing safer and more effective, the earlier embryos will provide more relevant information," he said.

The controversy surrounding gene-editing in human embryos partly stems from concern that the changes CRISPR makes in DNA can be passed down to the offspring of those embryos later in life, from generation to generation. Down the line, that could possibly impact the genetic makeup of humans in erratic ways.

"There is also considerable concern about off-target effects, such as making mutations at sites in the genome other than the intended target," Carroll said. In other words, an edit made in one area of DNA possibly could cause problems in another, as a ripple or domino effect, which could be concerning.

Though, not all experts are too concerned.

"Some people are worried about, where's this all going to head? Are we going to wind up with super babies and eugenics? And to me, I don't find that an interesting objection. It's too soon for that objection," Caplan said. "Clearly, if we're going to let this research proceed, it's going to be to treat diseases and prevent diseases."

"I hope the applications will be for the treatment of serious diseases and in cases where a sensible alternative is not available, as the National Academies' report proposes," Carroll said.

Greely said: "The National Academy of Sciences came out with a big report on Valentine's Day this year about genome editing in humans, and I thought they very usefully divided it into three categories: basic research, treating living people, and making changes that will pass down from generation to generation."

As for the reported new research, "this is category one. This is basic research," he said. "Category three is the ethically crucial one; this isn't that. We're still a long way from that."

"There are what are called point mutations where you can go in and fix one genetic error. The simpler the genetic error, the easier it might be to try to repair it using a CRISPR gene-insertion technique," Caplan said about genetic diseases.

"I think rather than trying to treat cystic fibrosis, or treat sickle cell, or treat hemophilia, it does make ethical sense to figure out ways to prevent it," he said. "Now, obviously if it's too risky we won't do it. If it's too dangerous or maybe it won't work, we still don't know. We're in the early, early days (of research), but I don't think it's fear of eugenics that should stop us."

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Report: Scientists edit human embryos for first time in US - CNN

Scientists, theologians ponder if biology and religion go together – Crux: Covering all things Catholic

OXFORD, England When Charles Darwin published his landmark theory of evolution by natural selection in the 19th century, religious leaders were confronted with a powerful challenge to some of their oldest beliefs about the origins of life.

Then evolutionary theory was expanded with the insights of genetics, which gave further support for a scientific and secular view of how humans evolved.

Faith and tradition were forced further onto the defensive.

Now, exciting progress in biology in recent decades may be building up a third new phase in the scientific explanation of life, according to thinkers gathered at a University of Oxford conference last week (July 19-22).

Although this 21st-century wave has no single discovery to mark its arrival, new insights into developing technologies such as genetic engineering and human enhancement may end up giving another important boost to the belief that science has (or eventually will have) the answers to lifes mysteries.

Some scientists, theologians and philosophers see in this ever deeper knowledge of how genes work a possible alternative to the more reductive approach to evolution one that brings in a broader view that also considers the influence of the environment.

Dr. Donovan Schaefer. (Credit: Photo courtesy of University of Oxford.)

Unlike the earlier views, which seemed to lead toward either agnosticism or atheism, the theologians see this new biology or holistic biology as more compatible with religious belief.

Weve added definition to the picture of evolution that has deepened and enriched our understanding of biological processes, Donovan Schaefer, an Oxford lecturer in science and religion who co-organized the conference, told the opening session of the July 19-22 meeting.

But he added: It would be naive to imagine that the grander questions about biology, religion, the humanities and evolutionary theory generally have been put to death.

The achievements on their list include new fields like epigenetics, the science of how genes are turned on or off to influence our bodies, and advances in cognitive and social sciences that yield ever more detailed empirical research into how we behave.

Waiting in the wings are new technologies such as genome editing, which can modify human genes to repair, enhance or customize human beings. Scientists in China are believed to have already genetically modified human embryos and the first known attemptto do so in the United States was reported this week (July 26).

Schaefer compared todays deeper understanding of biology to the higher resolution that photographers enjoy now that photography has advanced from film to digital images.

Genes once thought to be fairly mechanical in influencing human development leading to the my genes made me do it kind of thinking have been found to be part of complex systems that can act in response to a persons environment.

The Radcliffe Camera, a reading room of the nearby Bodleian Library, at University of Oxford on July 22, 2017. The unique building originally housed the Radcliffe Science Library. All Souls College is in the background. (Credit: RNS photo by Tom Heneghan.)

Since scientists succeeded in sequencing the genome in the late 1990s, they have found that epigenetic markers that regulate patterns of gene expression can reflect outside influences on a body.

Even simpler living objects such as plants contain a complex internal genetic system that governs their growth according to information they receive from outside.

To theologians who see a new biology emerging, this knowledge points to a more holistic system than scientists have traditionally seen, one more open to some divine inspiration for life.

In this view, the fact that epigenetic markers can bring outside pressures to bear on the genome deep inside a human means genetics is not a closed system, but part of the wider sweep of nature in which they, as religious thinkers, also see Gods hand.

Professor Alister McGrath, director of the Ian Ramsey Centre for Science and Religion. (Credit: Photo courtesy of University of Oxford.)

Nature is so complex and rich and that prompts questions about why on earth is this the case? If youre an atheist, how do you explain a universe that seems to have the capacity to produce these things in the first place? asked Alister McGrath, an Oxford theologian who is director of the Ian Ramsey Centre for Science and Religion that hosted the conference.

This in turn opened a space for theologians to augment the discussion about the new biology, he said.

Massimo Pigliucci, a philosopher at New Yorks City College with doctorates in genetics and evolutionary biology, also said scientism the idea that science can answer all lifes important questions was too limited.

Science informs and grounds certain philosophical positions; it doesnt determine them, he said. But the data cant settle ethical questions.

Pigliucci agrees with the trend to use the evolutionary paradigm to analyze fields outside of biology, including topics such as ethics and morality.

The life sciences tell us that the building blocks of what we call morality are actually found presumably they were selected for in nonhuman social primates, he said. Science gives you an account of what otherwise looks like magic: Why do we have a moral sense to begin with? How did we develop it?

Not all present agreed that science could explain religion.

Some suspect that biology has triggered some kind of devotion and there are too many people who practice this cult, said Lluis Oviedo, a theologian at the Pontifical University Antonianum in Rome.

His own research has found at least 75 books and academic articles trying to explain religion through evolution and he knew of about 20 more on the way, he said.

Although he thinks, the time of explaining through radical reduction is over, he admitted few biologists seemed ready to accept the more holistic new biology.

Even some scientists at the conference, while ready to engage with the philosophers and theologians, showed less interest in discussions about whether a new biology was emerging.

A dawn fog on Christ Church Meadow obscures the view of the historic University of Oxord in England. (Credit: Photo courtesy of Creative Commons/Tejvan Pettinger.)

Im pragmatic, explained Ottoline Leyser of the University of Cambridge, whose lecture on plant genetics was one of the conferences highlights.

Theologians in the decades long science and religion debate, which argues the two disciplines complement each other, have also become more pragmatic as their dialogue proceeds.

Oxfords McGrath said the theologians had become more modest in the claims they made about what religion could contribute to this debate. Unlike some more doctrinaire scientists, he said, they did not think they had all the answers.

They dont say These observations in nature prove or disprove God, he said. Our religious way of thinking gives you a framework which allows you to look at the scientific approach to the world and understand why it makes sense, but at the same time also to understand its limits.

Those things need to be in the picture if were going to lead meaningful lives.

Continued here:

Scientists, theologians ponder if biology and religion go together - Crux: Covering all things Catholic

US Scientists Just Edited a Human Embryo for the First Time. (Yes, People Are Freaking Out.) – Mother Jones

Heres what you need to know.

Kate HarloeJul. 28, 2017 1:35 PM

Ben Birchall/Associated Press

For the first known time in the United States, scientists used a gene-editing technique called CRISPR to modify early-stage human embryos, according to a report published Wednesday in MIT Technology Review.

Since the development several years ago ofCRISPR, a tool that allows scientists to change sequences of DNA within a cell, scientists have speculated about its potential to free families of genetic disease or stop the spread of other diseases like malaria, among other possibilities. But the technology also raises major ethical questions.

Heres a quick rundown of the latest breakthroughand how it could change the way we think about humanreproduction and, well, humans themselves.

How did the experiment work?

According to MIT Technology Reviews report, a team of researchers at Oregon Health & Science University, led by geneticist Shoukhrat Mitalipov, used CRISPR to correct disease-causing genes in human embryos. Its not yet clear whether these were viable embryosembryos that could, theoretically, grow into humans.

A wide range of diseaseslike Huntingtons, sickle-cell anemia, and Tay-Sachs, for exampleare caused by mutations in genes. Its also not clear what genes Mitalipov and his team edited in their experiment. But regardless, it appears that their study was successful in a couple ways: First, they reportedly edited a greater number of embryos than scientists had in previous studies. Second, Mitalipov and his team claim they did so without causing as manyerrors as previous scientists.

CRISPR has been used to edit human embryos a few times before; Chinese scientists did it in March. But in prior experiments, scientists ran into problems when CRISPR edits were taken up only by some of the cells in an embryo. This is called mosaicism:it means that the child that develops from the embryo could still inherit the disease that scientists tried to edit away.

According to MITs report, Mitalipov reduced the occurrence of mosaicism and seemed to largely avoid off-target edits (another kind of CRISPR error, wherein scientists accidentally alter a gene other than the one they aim to change).

Why is this important?

A couple reasons. First, its the only known attempt to use CRISPR to edit human embryos in the United States. More on the legality of that below.

Second, if this attempt really was successful, its big news for people whose families carry genetic disease. In theory, using this technique, scientists could edit not just our offspring, but our offsprings offspring. This is called human germline editing. When scientists edit the DNA in an embryo, the changes will theoretically be inherited by each successive generation, permanently fixing the germlinethe genetic inheritanceof a family.

This seems ethically complex.

Right. The ethics and laws surrounding human germline editingare murky. Scientists in favor of human germlinemodification often argue that the techniquewill help us reduce the occurrence of genetic diseases.

But criticsdisagree.This is just not needed for preventing inheritable disease, said Marcy Darnovsky, Executive Director of the Center for Genetics and Society. There are [other techniques that] can already be used safely to prevent the births of children with serious genetic diseases in almost every case. One example of such a technique is preimplantation diagnosis, commonly referred to as PGD, which allows parents to screen embryos for certain disease-causing genes before implanting them through in vitro fertilization (IVF). But its not always effectiveif someone carries two copies of a defective gene, for example, all their embryos would carry that gene, as well.

Darnovsky also worries about safety. Despite whatever the claims are about safety, [like] no mosaicism, we still dont know if that would mean its safe to create a new human being and anyone who tried it would be taking an enormous and unacceptable risk with that future persons life.

Another concern: Right now, scientists aresupposed to stick to editing disease-causing genes. But the technology opens up the possibility of editing genes for enhancementallowing parents to edit for certain kinds of physical and behavioral characteristics in their children. Darnovsky worries that this would usher in an era of genetic discrimination. That would be layering new forms of inequality and discrimination onto the ones we already live with, she said.

Is this legal?

Probably.In 2015, Congress passed a law forbidding the Food and Drug Administration from reviewing applications for germline editing of human embryos, meaning no clinical trials can move forward with FDA funding. We dont yet knowhow Mitalipov funded his project, but assuming it was funded privately, its perfectly legal.

That wouldnt be the case in many other countries. The Center for Genetics and Society reports that over 40 countries, including most with established biotech sectors, have established legal prohibitions on germline modification for human reproduction. An international treaty also prohibits it. The United States has no such policy.

Whats next?

Well know more once the study is released, but its worth noting that in February of this year, the National Academy of Sciences and the National Academy published a report that said human germline editing could be permitted in the future. It outlined criteria for germline editing, recommending that it only be used for disease prevention. The authors of the report wrote that editing for the enhancement of human traits and capacities should not be allowed at this time. But the report didnt eliminate the possibility of editing for enhancement in the future.

Reactions to the report were mixed. Some experts, like Darnovsky, feel that human germline modification should not be done for any purpose. But in an interview with Science, Eric Lander, president and founding director of MIT and Harvards Broad Institute, a genomics research center, said he thought the report struck the right balance of optimism and caution. They want to put friction tape on the slope so the slope isnt slippery, Lander said. Whether and for how long the tape will hold is an open question.

Mother Jones is a nonprofit, and stories like this are made possible by readers like you. Donate or subscribe to help fund independent journalism.

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US Scientists Just Edited a Human Embryo for the First Time. (Yes, People Are Freaking Out.) - Mother Jones

A race is underway to repair our hearing with medicine – TechCrunch

On any bustling city street, in the middle of the afternoon, its probably the case that half or more people are wearing earbuds, while the rest are abiding the noise pollution all around them. No one thinks twice about it, either.

The reality is that from a very young age, our hearing is now under assault.Little wonder that one in eight people in the United States aged 12 years or older has hearing loss in both ears, based on standard hearing examinations. By age 65, one in three people has hearing loss.

The problem will only grow as more people flock to city centers. According to recent United Nations data, roughly 54 percent of the worlds population lives in urban areas right now, and that number is expected to hit 66 percent by 2050, meaning cities could take in another 2.5 billion people, accounting for population growth.

With any luck, in our lifetimes, potentially soon, even, some of this hearing loss will be fixable not with hearing aids or cochlear implants, which arent available to everyone and dont work for a high percentage of people anyway. Scientists think instead that the combination of human genetics and single cell expression profiling has brought us to the point where medicine can help fix hearing. In fact, there are right now a small number of outfits quietly racing to develop the first approved drug for hearing loss, and if, like us, you live with a playlist unspooling in your ears part of each day, you should be rooting for them to succeed.

Some are further along than others, as a recent Xconomy piece observed. San Diego-basedOtonomyhas a drug for swimmers ear that could be approved this year. Meanwhile,Auris Medical, a Swiss biotech whose tinnitus candidate last year failed to beat a so-called dummy therapy in a Phase 3 trial, is currently working on other hearing loss conditions.

Both Otonomy and Auris Medical are publicly traded, but they have peers (and rivals) in the still-private world. Two young startups to watch they have strong founders and top venture backing on their side areFrequency Therapeutics and Decibel Therapeutics, both based in Boston.

Decibel Therapeutics was incubated by the powerhouse investment firm and incubator Third Rock Ventures. Along with SROne (a venture fund that counts GlaxoSmithKline as its sole investor), Third Rock provided the company with $52 million to get started in 2015, and it more recently raised an undisclosed amount of funding from GV.

Anthony Philippakis, a venture partner at GV who led the deal, says one aspect of Decibel that excited him is its portfolio approach, with some of its focus on single cell genomics, some on human genetics, some on direct-to-patient clinical trials and some on generating phenotypic data about the hearing system. (Philippakis seems to have embraced a portfolio approach to his own work. In addition to working with GV, hes a cardiologist at Brigham and Womens Hospital, and the chief data officer at Broad Institute of Harvard and MIT.)

As Decibels CEO, Steve Holtzman explains of the companys modus operandi: If you make investments in a broad discovery and translational medicine platform for drug discovery not just take a shot on goal with a single drug or assay you have a better chance to dominate the space.

Indeed, Holtzman who is focused first on hearing loss in millennials but who has ambitions to tackle hearing loss across the age spectrum says Decibel is working on drugs to reduce against drug toxicity [which can cause hearing loss], drugs to repair hair cells [in the inner ear] , drugs that are looking at other aspects of hearing that may involve the [central nervous system], and drugs focused on regeneration [versus just cellular repair].

Our play is much broader than that of any other firm, adds Holtzman, who has worked in the biotech industry for roughly 30 yearsand helped co-found the company with Third Rock.

Holtzman doesnt mention Frequency Therapeutics specifically, but its probably no coincidence that Frequency which recently raised $32 million in Series A led by CoBro Ventures, an investment firm formed by tech entrepreneur Marc Cohen and his brother Alain is taking a rather different approach.

The vision for the company started three years ago, says CEO David Lucchino. Bob Langer, a renowned biomedical engineer at MIT, had teamed up with peer Jeffrey Karp of Harvard Medical school on research showing that cells in the inner ear theyre called progenitor cells, and each of us is born with a fixed number of them could potentially be manipulated to create new inner ear cells.

Why thats important: these inner ear hair cells absorb sound and convert it to electrical impulses.

Frequencys lead program is focused on treating chronic hearing loss by regenerating cochlear hair cells with combinations of easily made drug molecules. But one challenge, among many, is whether this growth can happen in vivo. Why no one yet knows: Langer and Karps earlier findings involved human cochlear tissue that had been removed from a 40-year-old, whod had to have it removed in order for surgeons to get to a tumor.

Though the researchers witnessed an encouraging response from the tissue after dosing it with drugs, shooting medicine directly into someones ear and getting it to grow new cells is a giant leap from that starting point. Lucchino acknowledges, too, that determiningwhat amount of medicine to inject, or how often to inject it, would present a whole new host of other obstacles to overcome.

Given the various unknowns, its perhaps no surprise that Lucchino who worked as a venture capitalist with Polaris Partners before founding an earlier biosciences company 10 years ago says Frequency plans to focus on more than hearing eventually.

Its our first focus, but we view ourselves as a next-generation regenerative medicine player. And hearing is a wonderful place for us to start.

Either way, Frequency might find encouragement in other initiatives that are making meaningful strides. For example, two projects similarly involving endogenous cells (meaning already present in the body), are now in clinical development at the Swiss company Novartis.

The programs which came out of the small-molecule regenerative program of Scripps Research Institute of La Jolla, Calif. are focused on other areas, including treating multiple sclerosis and gastrointestinal problems. Some academics see the approach as potentially very powerful, however. If only it works. Stay tuned.

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A race is underway to repair our hearing with medicine - TechCrunch

Scientists Crispr the First Human Embryos in the US (Maybe) – WIRED

As powerful as the gene-editing technique Crispr is turning out to beresearchers are using it to make malaria-proof mosquitoes , disease-resistant tomatoes, live bacteria thumb drives , and all kinds of other crazy stuffso far US scientists have had one bright line: no heritable modifications of human beings.

On Wednesday, the bright line got dimmer. MIT Technology Review reported that, for the first time in the US, a scientist had used Crispr on human embryos.

Behind this milestone is reproductive biologist Shoukhrat Mitalipov, the same guy who first cloned embryonic stem cells in humans. And came up with three-parent in-vitro fertilization . And moved his research on replacing defective mitochondria in human eggs to China when the NIH declined to fund his work. Throughout his career, Mitalipov has gleefully played the role of mad scientist, courting controversy all along the way.

Yesterdays news was no different. Editing viable human embryos is, if not exactly a no-no, at least controversial. Mitalipov and his colleagues at Oregon Health and Science University fertilized dozens of donated human eggs with sperm known to carry inherited disease-related mutations, according to the Tech Review report. At the same time, they used Crispr to correct those mutations. The team allowed the embryos to develop for a few days, and according to the original and subsequent reports a battery of tests revealed that the resulting embryos took up the desired genetic changes in the majority of their cells with few errors. Mitalipov declined to comment, saying the results were pending publication next month in a prominent scientific journal.

Big if true, as the saying goes. Mitalipovs group never intended to implant the eggs into a womb, but the embryos were clinical quality and probably could have survived implantation. That makes this only the second time scientists anywhere have edited viable embryosif thats indeed what Mitalipov did. Maybe this news is important enough to make it to the popular press without a peer-reviewed, published paper, but without one its impossible to be definitive on what Mitalipov actually did versus what hes claiming to have done.

Lets say its all real. Is it creepy? Maybe. But its also legalat least in Oregon, where embryo research is kosher as long as it doesnt involve federal funding. Officials at OHSU confirmed that the work took place there, and that it met the universitys Institutional Review Board criteria for safeguarding the rights and welfare of subjects involved in human researchpresumably the donors of the eggs and sperm, in this case. No one on the outside knows which exact genetic tweaks the researchers actually made or how safe the procedure was. Tech Review was light on details.

That lack of transparency could turn into a real problem. These are special cells and they should have special considerations given to them if youre going to Crispr them, says Paul Knoepfler, a stem cell researcher at UC Davis who wrote a book on designer babies called GMO Sapiens . Knoepfler worries that incautious work like this could lead to political backlash against Crispr more broadly, like what happened to stem cell research in the 2000s under George W. Bush. We dont have an unlimited amount of time to talk about these things and figure them out, Knoepfler says. This stuff is moving at warp speed and we need to get our act together on establishing guidelines that are much clearer about what is OK and what isnt.

Not that scientists havent tried. In February the National Academy of Sciences produced a report with its first real guidelines for Crispr research. It did not go so far as to place a moratorium on gene editing of the human germlinemodifications that a persons offspring could inheritthough it did suggest limitations. Scientists are only supposed to edit embryos to prevent a baby from inheriting a serious genetic disease, and only if the doctors meet specific safety and ethical criteria, and if the parents have no other options.

Those obstacles arent insurmountable, and a particularly slippery slope winds between them. At the Aspen Ideas Festival last month, UC Berkeley biologist Jennifer Doudna , one of the people who discovered Crispr, stressed the need for a unified policy on germline editing before scientists really start doing it. Once that begins, I think it will be very hard to stop, she said. Itll be very hard to say, Ill do this thing but not that thing. And at that point, who decides?

In the US, itll probably be the federal government. Congress has already banned federal funding for the human testing of gene-editing techniques that could produce modified babies. That provision is tucked into an appropriations rider that has to be renewed each year, so its an annually moving target. Congress has also barred the US Food and Drug Administration from even considering clinical trials of embryo editing. But even if those laws did change, the FDAs approval process for these kinds of technologies is among the strictest in the world. They would require years and years of animal studies before the first test embryo could conceivably be conceived.

Sarah Zhang

Crispr Is Getting Better. Now It's Time to Ask the Hard Ethical Questions

Nick Stockton

Read This Before You Freak Out Over Gene-Edited Superbabies

Nic Cavell

The UK Just Green-Lit Crispr Gene Editing in Human Embryos

For this to be something other than just a reckless person doing something crazy, were looking at least a decade and maybe more of safety testing, says Hank Greely, a law professor and bioethicist at Stanford. In countries with laxer laws, it could happen soonerlike, say, China , where scientists have reported three attempts at using Crispr to modify human embryos.

The first two studies used genetically defective embryos that could never come to term, but the most recent, published in March, used viable embryos. And while all three studies produced mixed results, Crispr was most successful at repairing faulty genes in the normal embryos. Experiments are also moving forward in Sweden and the UK that use Crispr to knock out different genes in viable embryos to study effects on development.

Still, dont panic . Modifying embryos that are never going to be implanted is not close to the boundary, Greely says. Doing it in embryos you might want to implant is real close to the boundary and shouldnt be done without any discussion. But thats not what Mitalipov did. Maybe. All the institutions apparently involved with the research refused to comment citing an embargo, which would make sense if there were an embargo to break. There wasn't, according to Antonio Regalado, who covers genetics for Tech Review but didn't write this story. Consider it instead just a good new-fashioned leak.

If you think of viable-embryo Crispr research as a journey and not a destination, right now scientists all over the world are on the same path. But at some point the road will fork: Someone will implant an engineered embryo into a human womb. The work coming out of China and Mitalipov's lab has this implied assumption that someday it will wind up being used heritably in humans, Knoepfler says. And I think that requires a unique obligation for being more open about it. Mitalipov's research is not a good start.

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Scientists Crispr the First Human Embryos in the US (Maybe) - WIRED

3 things you probably didn’t know about humans’ ancient relationship with dogs – Salon

This article originally appeared on AlterNet.

Dogs were the first animal to cohabit with humans, and modern research increasingly reveals the many ways in which humans and dogs have grown in tandem for thousands of years. New research out this week reveals that has likely been the case since the Early Neolithic period in ancient Europe, which dates the canine-human relationship back much further than previously theorized. New DNA research published this week in the journal Nature Communications shows modern dogs likely came from a single pack of wolves between 20,000 40,000 years ago in Eurasia.

While previous studies suggested there may have been two separate instances of wolf domestication, the new study notes that most dogs of today can be traced back to a single Ancient European dog genome. While the study narrows the origins of dogs down to a 20 thousand year period, the exact location and timing remains a mystery.

Science has shown that the relationsihp between dogs and humans has always been a mutual one, and our ancient ties likely began because of a few hungry and particularly friendly wolves.

Here are three key scientifictheories about dog-human co-evolution:

1. A genetic mutation made some wolves (and dogs) want to cuddle with us and be our friends

Dogs like to stay closer to humans and gaze at us longer than wolves do, a new study of canine genetics at Princeton University observed. And, the likelihood of an animal doing this correlates with that animals given DNA.

As an article in the LA Times about the new study notes, similar genetic mutations in humans are linked with a rare developmental disorder called Williams-Beuren Syndrome (WBS).

People with WBS are typically hyper-social, meaning they form bonds quickly and show great interest in other people, including strangers, the Times piece notes.

In the study, researchers found that the more social dogs and wolves had similar mutations in three genes called GTF2I, GTF2IRD1 and WBSCR17. Those same genes have been observed in other studies to cause increased social behavior in mice and are thought to do the same thing in humans.

2. Dogs probably domesticated us, not the other way around

Some scientists theorize that friendly wolves sought out humans. They probably made the first move in our thousands-of-years-old relationship, as a 2013 National Geographic feature details.

The article explains that the theory that humans used dogs to hunt doesnt hold much water because humans were already successful hunters without wolves, and didnt tend to be friendly towards other carnivorous species. It theorizes that friendly wolves likely made the first move, and sought out human relationships:

The wolves that were bold but aggressive would have been killed by humans, and so only the ones that were bold and friendly would have been tolerated.

Over time the physicality of those friendlier wolves changed.

Domestication gave them splotchy coats, floppy ears, wagging tails. In only several generations, these friendly wolves would have become very distinctive from their more aggressive relatives.

3. Dogs and humans ate together as we evolved, so our digestion has developed similarly

As researchers on a 2013 study of dog genetics explain, there are a number of corresponding genes in dogs and humans particularly when it comes to processing food.

In both of our species, the genes responsible for metabolism and digestion, such as the genetic code for cholesterol, changed similarly. Researchers theorized those changes could be due to dramatic changes in the proportion of plants vs meats dogs and humans were consuming around the same time.

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3 things you probably didn't know about humans' ancient relationship with dogs - Salon

If you could ‘design’ your own child, would you? – Washington Post

Scientists in Portland, Ore., just succeeded in creating the first genetically modified human embryo in the United States, according to Technology Review. Ateam led by Shoukhrat Mitalipov of Oregon Health & Science University is reported to have broken new ground both in the number of embryos experimented upon and by demonstrating that it is possible to safely and efficiently correct defective genes that cause inherited diseases.

The U.S. teamsresults follow two trials one last year and one in April by researchers in Chinawho injected genetically modified cells into cancer patients.Theresearch teamsused CRISPR, a new gene-editing system derived from bacteria thatenables scientists to editthe DNA of living organisms.

The era of human gene editing has begun.

In the short term, scientists are planning clinical trials to use CRISPR to edit human genes linked to cystic fibrosis and other fatal hereditary conditions. But supporters of synthetic biology talk up huge potential long-term benefits. We could, they claim, potentially edit genes and build new ones to eradicate all hereditary diseases. With genetic alterations, we might be able to withstand anthrax attacks or epidemics of pneumonic plague. We might revive extinct species such as the woolly mammoth. We might design plants that are far more nutritious, hardy and delicious than what we have now.

But developments in gene editing are alsohighlighting a desperate need for ethical and legal guidelines to regulate in vitro genetic editing and raising concerns about a future in which the well-off couldpay for CRISPR to perfect their offspring. We will soon be faced with very difficult decisions aboutwhen and how to use this breakthrough medical technology.For example, if your unborn child were going to have a debilitating disease that you could fix by taking a pill to edit theirgenome, would you take the pill? How about adding some bonusintelligence? Greater height or strength? Where would you draw the line?

CRISPRs potential for misuse by changinginherited human traits has prompted some genetic researchers to call fora global moratorium on usingthe techniqueto modify human embryos. Such use is a criminal offense in 29 countries, and the United States bans the use of federal funds to modify embryos.

Still, CRISPRs seductiveness is beginning to overtake the calls forcaution.

In February, an advisory body from the National Academy of Sciences announcedthe academys support for usingCRISPR to edit the genes of embryos to remove DNA sequences that doctors saycause serious heritable diseases. The recommendation came with significant caveats and suggested limiting the use of CRISPR to specific embryonic problems. That said, the recommendation is clearly an endorsement of CRISPR as a research tool that is likely to become a clinical treatment a step from which therewill be no turning back.

CRISPRs combination of usability, low cost and power is both tantalizing and frightening, with the potential tosomeday enableanyone to edit a living creature on the cheap in their basements. So, although scientists might use CRISPR to eradicate malaria by making the mosquitoes that carry it infertile, bioterrorists could use it to create horrific pathogens that could kill tens of millions of people.

With the source code of life now so easy to hack, and biologists and the medical world ready to embrace its possibilities, how do we ensure the responsible use of CRISPR?

Theres a line that A Prairie Home Companion host Garrison Keillor uses whendescribing the fictional town of Lake Wobegon, whereall the children are above average. Will we enter a time when those who can afford a better genome will live far longer, healthier lives than those who cannot? Should the U.S. government subsidize genetic improvements to ensure a level playing field when the rich have access to the best genetics that money can buy and the rest of society does not? And what if CRISPR introduces traits into the human germ line with unforeseen consequences perhaps higher rates of cardiac arrest or schizophrenia?

Barriers to mass use of CRISPR are already falling. Dog breeders looking to improve breedssuffering from debilitating maladies are actively pursuing gene hacking. A former NASA fellow in synthetic biology now sells functional bacterial engineering CRISPR kits for $150 from his online store. Its not hard to imagine a future in which the big drugstore chains carry CRISPR kits for home testing and genetic engineering.

The release ofgenetically modified organisms into the wildin the past few years has raised considerable ethical and scientific questions. The potential consequences of releasing genetically crippled mosquitoes in the southern United States to reduce transmission of tropical viruses, for instance, drew a firestorm of concern over the effects on humans and the environment.

So, while the prospect of altering the genes of people modern-day eugenics has caused a schism in the science community, research with precisely that aim is happening all over the world.

We have arrived at a Rubicon. Humans are on the verge of finally being able to modify their own evolution. The question is whether they can use this newfound superpower in a responsible way that will benefit theplanet and its people. And a decision so momentous cannot be left to the doctors, the experts orthe bureaucrats.

Failing to figure out how to ensure that everyonewill benefit from this breakthroughrisks the creation of a genetic underclasswho must struggle to compete with the genetically modified offspring of the rich. Andfailing to monitor and contain how we use itmay spell global catastrophe. Its up to us collectively to get this right.

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If you could 'design' your own child, would you? - Washington Post

A Cellular Immune Surveillance Mechanism that Detects Cancer Early – Technology Networks

Fresh insights into how cells detect damage to their DNA a hallmark of cancer could help explain how the body keeps disease in check.

Scientists have discovered how damage to the cells genetic material can trigger inflammation, setting in motion processes to remove damaged cells and keep tissues healthy.

Cancer

The findings shed new light on how potentially cancerous cells are flagged, so that they can be removed as part of the bodys natural surveillance systems before tumours form.

A key molecule called cGAS is known to bind DNA, triggering inflammation. Until now, it was not clear how this happens as DNA is usually physically separated from the rest of the cell inside a compartment called the nucleus.

DNA damage

When damage occurs, fragments of DNA can get separated from the nucleus and form structures called micronuclei.

Researchers at the MRC Human Genetics Unit at the University of Edinburgh discovered that cGAS can penetrate these micronuclei and bind to DNA, initiating mechanisms that lead to inflammation.

Alarm system

As DNA damage is often one of the early steps in the development of cancer, the detection of micronuclei by cGAS could therefore be an important early alarm system allowing the human body to detect and remove potentially cancerous cells.

Inflammation

The team say their findings could also shed light on how inflammation occurs in certain types of autoinflammatory diseases, where the immune system attacks the bodys own tissues.

Our findings provide a possible new mechanism for how the body protects itself against cancer, but in some circumstances could instead trigger inflammatory disease.

Dr Karen Mackenzie, MRC Human Genetics Unit, University of Edinburgh

We hope that this research will inform future studies into the development of improved therapeutic approaches.

Dr Martin Reijns, Senior Research Fellow, MRC Human Genetics Unit

Reference

Mackenzie, K. J., Carroll, P., Martin, C. A., Murina, O., Fluteau, A., Simpson, D. J., ... & Osborn, R. T. (2017). cGAS surveillance of micronuclei links genome instability to innate immunity. Nature.

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A Cellular Immune Surveillance Mechanism that Detects Cancer Early - Technology Networks

In US first, scientists edit genes of human embryos – CBS News

Last Updated Jul 27, 2017 1:50 PM EDT

For the first time in the United States, scientists have edited the genes of human embryos, a controversial step toward someday helping babies avoid inherited diseases. According to MIT Technology Review, which first reported the news on Wednesday, the experiment was just an exercise in science the embryos were not allowed to develop for more than a few days and were never intended to be implanted into a womb. Officials at Oregon Health & Science University confirmed that the work took place there and said results would be published in a journal soon. It is thought to be the first such work in the U.S.; previous experiments like this have been reported from China. The Oregon scientists reportedly used a technique called CRISPR, which allows specific sections of DNA to be altered or replaced. It's much more precise than some types of gene therapy that cannot ensure that desired changes will take place exactly where and as intended. With gene editing, the changes are permanent and would be passed down to any offspring.

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The approach holds great potential to avoid many genetic diseases, but has raised fears of "designer babies" if done for less lofty reasons, such as producing desirable traits.

MIT Technology Review reports that the scientists created IVF embryos using donated sperm from men carrying inherited disease mutations.

"It is proof of principle that it can work. They significantly reduced mosaicism [errors in which desired DNA changes occurred in some but not all of the embryo's cells]. I don't think it's the start of clinical trials yet, but it does take it further than anyone has before," a scientist familiar with the project told the publication.

Last year, Britain said some of its scientistscould edit embryo genesto better understand human development. In animal studies, CRISPR has been used to successfully remove HIV infection from lab mice.

Earlier this year, the National Academy of Sciences and National Academy of Medicine said in a report that altering the genes of embryos might be OK if done under strict criteria and aimed at preventing serious disease.

"This is the kind of research that the report discussed," University of Wisconsin-Madison bioethicist R. Alta Charo said of the report of Oregon's work. She co-led the National Academies panel but was not commenting on its behalf Thursday.

"This was purely laboratory-based work that is incredibly valuable for helping us understand how one might make these germline changes in a way that is precise and safe. But it's only a first step," she said.

"We still have regulatory barriers in the United States to ever trying this to achieve a pregnancy. The public has plenty of time" to weigh in on whether that should occur, she said.

One prominent genetics expert, Dr. Eric Topol, director of the Scripps Translational Science Institute in La Jolla, California, said gene editing of embryos is "an unstoppable, inevitable science, and this is more proof it can be done."

Experiments are in the works now in the U.S. using gene-edited cells to try to treat people with various diseases, but "in order to really have a cure, you want to get this at the embryo stage," he said. "If it isn't done in this country, it will be done elsewhere."

2017 CBS Interactive Inc. All Rights Reserved. This material may not be published, broadcast, rewritten, or redistributed. The Associated Press contributed to this report.

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In US first, scientists edit genes of human embryos - CBS News

Human Ancestor Mated with ‘Ghost Lineage’ And the Proof Is in Your Spit – Live Science

Scientists have found that a "ghost" lineage of archaic human may have interbred with the ancestors of modern humans in what is now sub-Saharan Africa around 200,000 years ago.

A protein that helps make human spit slimy reveals signs that the ancestors of modern humans interbred with an extinct human lineage that was an even more distant relation than Neanderthals, a new study finds.

The ancestors of modern humans once shared the world with ancient human lineages such as the Neanderthals, the closest extinct relatives of modern humans, as well as the Denisovans, which might have once roamed a vast range stretching from Siberia to Southeast Asia. In previous research, DNA extracted from fossilized bones and teeth of Neanderthalsand Denisovanshas revealed that the ancestors of modern humans interbred with both of these groups.

Previous research also suggested that the ancestors of modern humans may have interbred with other human lineages not known from the fossil record. For example, a 2011 studyanalyzing modern human DNA found that the species may have bred with a now-extinct lineage of humanity before leaving Africa. [Denisovan Gallery: Tracing the Genetics of Human Ancestors]

Now, researchers suggest that a "ghost" lineage of ancient humans may have contributed the DNA for a protein called mucin-7 found in the saliva of modern humansliving in sub-Saharan Africa today.

"About 5 to 7 percent of every population in sub-Saharan Africa has this divergent protein," said Omer Gokcumen, study co-senior author of the new study and an evolutionary genomicist at the University at Buffalo in New York.

The scientists were investigating mucin-7 in order to learn more about its role in human health. This molecule helps give saliva its slimy consistency and binds onto microbes, potentially helping rid the body of dangerous germs.

The researchers examined copies of the gene for mucin-7 the gene is called MUC7 in more than 2,500 modern human genomes. The scientists found that a number of genomes from sub-Saharan Africa possessed a version of the MUC7 gene that was wildly different from versions found in other modern humans. In fact, the Neanderthal and Denisovan versions of this gene more closely resembled those of other modern humans than this outlier did.

The researchers suggested the most plausible explanation for this mysterious version of the MUC7 gene is that it came from what they called a "ghost" lineage that is, one that scientists have not found the fossils of yet.

"We were not looking for this discovery we essentially stumbled onto it," Gokcumen told Live Science.

That this variant is so widespread across Africa suggests that it may have entered the modern human gene pool before the ancestors of modern humans separatedinto different regions across that continent, Gokcumen said. Given the usual rate at which genes mutate during the course of time, the researchers estimated the interbreeding event with this mystery lineage "may have happened about 200,000 years ago, but this lineage separated from the ancestors of modern humans maybe 500,000 years or 1 million years ago," Gokcumen added.

The scientists said they aren't sure how the variants of this protein might differ in function. "We do know that MUC7 has two major functions," said study co-senior author Stefan Ruhl, an oral biologist also at the University at Buffalo. "One is helping to lubricate the oral cavity for eating and swallowing, and the other, and this may be more important, is to let good microbes stay in the body and sort out the undesirable ones."

An analysis of mouth, skin, stool and other biological samples from 130 people revealed that different versions of MUC7 were strongly associated with different oral microbiomes the collections of microbes within the mouth. "This suggests that MUC7 is interacting with the oral microbiome and plays a role in terms of viruses, bacteria, parasites or fungi," Ruhl told Live Science. "On the other hand, we haven't ruled out that it may play a role in lubrication say, when it comes to environmental conditions such as dryness of the air."

Future research can explore when and where this interbreeding happened, "and if it happened just once or multiple times," Gokcumen said.

The scientists detailed their findingsonline July 21 in the journal Molecular Biology and Evolution.

Original article on Live Science.

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Human Ancestor Mated with 'Ghost Lineage' And the Proof Is in Your Spit - Live Science

Scientists raise ethics alarm over use of DNA for research – Wired.co.uk

Grafner

When we choose to donate to biobanks, we often give up ownership of our own blood, saliva, urine and DNA for the sake of scientific research.

Now, ethics commentators are raising questions about whether asking someone for consent when they donate a sample, which can then be used for research purposes long after they die, is sufficient.

In a report published on 25 July in PLOS Biology, University of Alberta health law researchers Timothy Caulfield and Blake Murdoch argue that the legal and ethical principles surrounding consent for biobanking are worryingly vague.

We can volunteer to give our health information to researchers at biobanks so they can help prevent, diagnose and treat a wide range of serious and life-threatening illnesses for future generations. Yet the report argues that a consensus on who owns the samples of blood, urine and saliva, as well as what participants are agreeing to, doesn't exist. These issues are only going to intensify as more people question their rights.

Andrew Trehearne from UK Biobank, which asks donors to agree to give up ownership of samples, questions why a consensus is even necessary: "It's an interesting set of views, but it doesn't seem to offer any suggestions for improvement, and I can't see any detailed specifics. I am not sure why there has to be a consensus on consent type."

The report states that the 'broad' or 'blanket' consent strategies that biobanks use deviate from traditional legal norms. 'Broad consent' refers to when a donor consents to his/her samples being used once at the beginning of a research experiment it's the consent type used by UK Biobank, among others. Biobanks can then continue to use the samples for research purposes, without asking for further consent.

Is such 'passive' consent an issue? It's certainly something which has been debated before. Back in 2013, an article was published in the European Journal of Human Genetics which concluded that the 'broad consent' model is still preferable to using 'dynamic consent', where participants are asked to re-consent to every new experiment or use of their samples.

But the new report out this week says this view is outdated and that the arguments against using specific consent simply because it is 'inefficient and costly', just don't hold up. It's now very easy and cheap to keep in contact with participants electronically, for instance.

The crux of the issue with non-specific consent strategies is that participants might not fully understand what their DNA is being used for. The report argues that only 55 per cent of people agree with blanket consent if their specimens are being used to make profit for commercial companies.

Essentially, they lose trust in biobanks once they think they are receiving funding from industry. Biobanks, however, are reliant on such funding. They work largely on developing personalised medicine, and to get these studies to the clinical trial stage requires money.

What has given rise to these consent concerns now? The report refers to 'social trends', which have led to a discussion on policy namely a rise in support for biorights, the increasing involvement of industry, growing concern about privacy and high profile research controversies.

Biorights centre on the idea that research participants have an ongoing right to control their research samples, to benefit directly from the research, and/or to be financially compensated for their contribution.

People certainly seem not to like the fact they aren't in control, when consent is only given once. A 2016 study in the US found that nearly 44 per cent of a nationally representative sample believed blanket consent was unacceptable, while 38 per cent felt it was the worst in a range of consent policy options.

This hasn't dampened the success of UK Biobank, whose 500,000 participants joined them under broad consent and have remained with them for the duration.

One criteria participants must agree to is: "I give permission for long-term storage and use of my blood and urine samples for health-related research purposes (even after my incapacity or death), and relinquish all rights to these samples which I am donating to UK Biobank."

"We think it's important that [our participants] know what they are doing and what we are using their samples for, which is why we send out annual news letters and host events. Participants are also allowed to withdraw at any time," says Trehearne.

Part of 'what they are doing', is giving permission for long-term storage and use of blood and urine samples for health-related research purposes (even after incapacity or death), and relinquishing all rights to these samples.

Considering participants receive no payment or results on their own health, the vast number that still sign up are contributing, altruistically, to biomedical research.

Still, the issue of whether this is fair and whether agreeing to something once is enough to last a lifetime, is still up for discussion.

In the meantime, biobanks must strive to ensure they obtain proper, legal consent, or risk having to destroy an abundant amount of health data.

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Scientists raise ethics alarm over use of DNA for research - Wired.co.uk

Dogged genetics research identifies genes associated with skin disorder – Clemson Newsstand

CLEMSON With patches of exposed skin, large lesions across her face and dull, expressionless eyes, you might think Lorelei, a Shetland sheepdog, has been abused. But that would be far from the truth: Lorelei is loved and well cared-for. She suffers from a painful condition called dermatomyositis, a genetic skin disorder that affects dogs and humans.

Lorelei, a Shetland sheepdog living in France, became the poster dog for dermatomyositis. The disease caused painful lesions on her face, feet, ears and tail when she was a puppy, as seen in this photo.

The discovery, by Leigh Anne Clark, an associate professor of genetics at Clemson University, and her colleagues, could improve the future for dogs with dermatomyositis. The findings could also give scientists clues into the genetic variations of the 10 in 1 million people who have the disease.

The results from our study can be used as a tool for dog breeders to prevent the disease from affecting puppies, while preserving desirable traits and genetic variation within the breed. Using this new resource, even a dog with dermatomysitis can produce healthy puppies with a mate having a compatible genotype, said Clark.

Before their latest study, Clark and her colleagues were aware of several factors that indicated the disease is multifactorial, deriving from a combination of genetic and environmental effects.

Clark is developing a genetic test for breeders that will tell them the risk of a dame and a sire having puppies with dermatomyositis.

In dogs, dermatomyositis is seen almost exclusively in collie and Shetland breeds. A hereditary disorder will only affect certain breeds, whereas a non-genetic disorder should affect all dog breeds at the same frequency, so Clark knew the disease had a genetic basis.

Her team also recognized that the condition is a complex disorder involving several genetic components as opposed to a simple dominant or recessive disorder because of a wide range of characteristics, or phenotypes, that appear in affected dogs. And they knew that dermatomyositis involved genetic changes in the major histocompatibility complex, which functions in immune defense.

Clark also suspected that an environmental component often triggers onset of the disease because many dog owners reported the animals were under stress when the disease first appeared.

The team used genetic analyses from more than 160 dogs around the world, including Lorelei, who lives in France. Then they conducted a genome-wide association study, or GWAS, to compare genetic variants present in dogs that are affected and unaffected to determine which genetic changes are exclusive to affected dogs. GWAS allowed them to identify an association between a genetic variant and the disease phenotype.

The results displayed a very strong correlation between the dermatomyositis phenotype and variants on chromosomes 10 and 31, suggesting that risk variants for dermatomyositis were located on those chromosomes.

I remember when we saw [the results]. We were speechless. We started looking at the genotypes and writing them down, and it was exciting, said Clark.

Due to the complexity of dermatomyositis, Clark suspects that the genetic variants are working in conjunction to produce the disease. This is known as an additive effect, wherein multiple genetic influences combine to produce the disease phenotype.

Human juvenile dermatomyositis and canine dermatomyositis display similar symptoms and clinical expressions; they are both vasculopathies, affecting connective tissues. Clark hopes her research can be applied to identify risk alleles in humans.

Although this study is a breakthrough in understanding the genetic basis of dermatomyositis, Clark believes there is a lot more to learn about the disease. Future research will focus on dogs with moderate-risk genotypes, specifically asking why some moderate-risk dogs express the disease and others do not. Clark and her team also have a grant with the Collie Health Foundation to investigate moderate risk genotypes.

When Clark was growing up in Texas she worked for a Shetland breeder, an experience that fueled her love of dogs, taught her about breeding techniques and introduced her to genetics. She began researching dermatomyositis in 2004 as a postdoctoral fellow at Texas A&M University, but the work hit a dead end. Clark returned to the project several years later at Clemson, following the invention of new genetic techniques. She received funding to investigate the genetic basis of dermatomyositis in 2010.

Clarks work will help breeders accurately identify which dogs to pair for breeding. By understanding the genetic risks, breeders can selectively mate the dogs to reduce the disease in the population.

Eventually, Clark thinks the disease could be bred out of dogs, leaving collies and Shetlands like Lorelei to be models for good behavior and beauty, and not for a genetic disorder.

END

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Dogged genetics research identifies genes associated with skin disorder - Clemson Newsstand

3 Things You Probably Didn’t Know About Humans’ Ancient Relationship with Dogs – AlterNet


AlterNet
3 Things You Probably Didn't Know About Humans' Ancient Relationship with Dogs
AlterNet
Dogs like to stay closer to humans and gaze at us longer than wolves do, a new study of canine genetics at Princeton University observed. And, the likelihood of an animal doing this correlates with that animal's given DNA. As an article in the LA Times ...

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3 Things You Probably Didn't Know About Humans' Ancient Relationship with Dogs - AlterNet