Santa Rosa, California (PRWEB) October 01, 2014

ATIV Software today released the ASHG 2014 mobile event app, built on the dynamic EventPilot platform, for leading scientists and members of the American Society of Human Genetics around the world. The EventPilot conference app, specialized in large scientific and medical meetings, allows attendees to view thousands of abstracts as well as share insights and opinions with peers. Learn more at http://ativsoftware.com.

EventPilot makes navigating our complex scientific program easy - you can even perform Boolean search through all of our abstracts offline, said Yimang Chen, Director of IT at the American Society of Human Genetics. The specialized features in EventPilot greatly enhance the attendee experience and bring value to scientific meetings like ours.

EventPilot scientific conference apps support large and complex programs while allowing users to seamlessly navigate content through clean design and intuitive UI. Robust search capabilities let users pinpoint sessions and research abstracts in seconds while multi-select filters help locate key information quickly and easily. Meeting planners can increase attendee engagement where users share insights and exchange opinions in context of the session. Attendee-to-attendee messaging provides a safe venue for direct interaction without releasing personal contact details, and allows for discussion to continue well after the event concludes. Credit flagging, schedule reminders, and animated maps help attendees stay organized throughout the meeting.

About EventPilot

The EventPilot mobile conference app features include:

Thousands of Abstracts and Posters Designed for scientific and medical events, EventPilot conference apps natively contain all conference proceedings.

Rich Experience and Paperless Events EventPilot supports paperless events by integrating PDFs, handouts, scientific abstracts, note taking, and more to create a valuable reference app that is used by attendees long after the event.

Networking Attendees can increase in-app dialogue through intuitive session commenting and messaging capabilities to achieve a more topic-based approach to conversations. Social media integration helps attendees to easily share breakthrough research topics.

Availability The free iPhone and iPad conference app is available now in the App Store. The free Android event app is available in the Android market. A web version for BlackBerry and other web- enabled devices is available at http://ativ.me/5ez.

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ASHG Launches Scientific EventPilot Meeting App with 3,500 Offline Abstracts for the Largest Human Genetics Meeting ...

PUBLIC RELEASE DATE:

30-Sep-2014

Contact: Cody Mooneyhan cmooneyhan@faseb.org 301-634-7104 Federation of American Societies for Experimental Biology @fasebopa

Having trouble getting pregnanteven with IVF? Here's some hope: A new research report published in October 2014 issue of The FASEB Journal, explains how scientists developed a synthetic version of a sperm-originated protein known as PAWP, which induced embryo development in human and mouse eggs similar to the natural triggering of embryo development by the sperm cell during fertilization.

"We believe that the results of this study represent a major paradigm shift in our understanding of human fertilization by providing a precise answer to a fundamental unresolved scientific question in developmental biology," said Mahmoud Aarabi, M.D., Ph.D., a researcher involved in the work from the Department of Human Genetics at Montreal Children's Hospital Research Institute in Montreal, Canada. "Based on our findings, we envision that physicians will be able to improve their diagnosis and treatment of infertility, a problem that affects 10-15 percent of couples worldwide, and scientists will be able to finally resolve the signalling pathway leading to initiation of embryonic development in mammals."

To make their advance, Aarabi and colleagues injected transcripts coding for PAWP protein into human eggs, and the immediate fertilization events, including release of calcium inside the eggs, were investigated carefully. (The human eggs used in this study were donated by infertile women and consisted of immature eggs that were further matured in the laboratory and thus were not suitable for IVF.) The injected eggs were fixed before cell division. A similar protocol was used in mice where the PAWP protein was injected into the eggs. The scientists found that when PAWP inhibitors were injected with the sperm cell into the eggs, a procedure known as ICSI in human infertility therapy, they blocked the sperm-induced fertilization. This is the first time that any sperm protein is shown to be susceptible to such an important inhibition effect.

"Reducing the number of IVF cycles for couple would save them money and disappointment," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "Equally important, this research helps us better understand the events that occur when an egg is first fertilized as well as what we can do to influence those events."

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Receive monthly highlights from The FASEB Journal by e-mail. Sign up at http://www.faseb.org/fjupdate.aspx. The FASEB Journal is published by the Federation of the American Societies for Experimental Biology (FASEB). It is the world's most cited biology journal according to the Institute for Scientific Information and has been recognized by the Special Libraries Association as one of the top 100 most influential biomedical journals of the past century.

FASEB is composed of 27 societies with more than 120,000 members, making it the largest coalition of biomedical research associations in the United States. Our mission is to advance health and welfare by promoting progress and education in biological and biomedical sciences through service to our member societies and collaborative advocacy.

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Synthetic sperm protein raises the chance for successful in vitro fertilization

The Medical College of Wisconsin center that read a young boy's genetic script and diagnosed his mysterious disease, ushering in a new era of medicine, has won a $2.5 million grant to analyze the genes of patients with undiagnosed diseases.

Under the four-year grant from the National Institutes of Health, the college's Human and Molecular Genetics Center will collaborate with Illumina Inc. to sequence the genomes of 1,650 patients and their families a project that could answer a crucial question hanging over genetic medicine.

The award, the Medical College's first major sequencing grant after several unsuccessful attempts, will examine whether it makes more sense to search for diagnoses by scanning a major part of the genome, called the exome, or to expand the search to the full genome.

"That's a question that's on a lot of people's minds right now," said Anastasia Wise, program director overseeing the NIH grant the Medical College was awarded.

When Nic Volker, then 4 years old, had his genes sequenced in 2009, the Medical College and Children's Hospital of Wisconsin focused on a little more than 1% of the genome, the exome, which contains the recipes for making proteins. Since many diseases are caused by the failure to make proteins correctly, scientists thought exome sequencing was the most efficient way to diagnose patients.

However, since the breakthrough that pinned down the cause of Volker's intestinal illness and saved his life, the cost of sequencing the full genome, all 3.2 billion chemical bases, has dropped considerably. The chemical bases, adenine, guanine, thymine and cytosine, each one reduced to a letter (A, G, T and C), stretch out like 3.2 billion rungs on a ladder to form our genetic makeup everything from the color of our eyes and hair to our risks of different diseases.

Before Volker's sequence was read, scientists at the Medical College estimated that reading the genome could cost up to $2 million; as it turned out targeting only the exome reduced the cost to about $75,000.

Today, sequencing centers read a genome for about $2,000 to $3,000 and an exome for $500 to $1,000, Wise said.

At the Medical College, three of the nine patients diagnosed using genome sequencing could not have been diagnosed with the exome method, according Howard Jacob, director of the human and molecular genetics center.

The new grant "will directly test if whole genome sequencing makes more diagnoses than exome sequencing," Jacob said. "We're hypothesizing a 25% greater diagnostic rate with genome than with exome sequencing."

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Medical College of Wisconsin awarded $2.5 million grant

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Newswise Philadelphia, Sept. 25, 2014 An international research team has identified gene mutations causing severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another.

This research represents a paradigm shift in epilepsy research, giving us a new target on which to focus treatment strategies, said pediatric neurologist Dennis Dlugos, M.D., director of the Pediatric Regional Epilepsy Program at The Childrens Hospital of Philadelphia, and a study co-author. There is tremendous potential for new drug development and personalized treatment strategies, which is our task for the years to come.

Multiple researchers from the U.S. and Europe performed the research, the largest collaborative study to date focused on the genetic roots of severe epilepsies. The scientists reported their results online today in the American Journal of Human Genetics (epub ahead of print).

Two international research consortia collaborated on the studythe Epi4K/EPGP Consortium, funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the European EuroEPINOMICS consortium. The genetic analysis was performed at the NINDS-funded Epi4K Sequencing, Biostatistics, and Bioinformatics Core at Duke University, led by Drs. David Goldstein, Erin Heinzen and Andrew Allen.

The current study added to the list of gene mutations previously reported to be associated with these severe epilepsy syndromes, called epileptic encephalopathies. The researchers sequenced the exomes (those portions of DNA that code for proteins) of 356 patients with severe childhood epilepsies, as well as their parents. The scientists looked for de novo mutationsthose that arose in affected children, but not in their parents. In all, they identified 429 such de novo mutations.

In 12 percent of the children, these mutations were considered to unequivocally cause the childs epilepsy. In addition to several known genes for childhood epilepsies, the study team found strong evidence for additional novel genes, many of which are involved in the function of the synapse.

Epilepsies are amongst the most common disorders of the central nervous system, affecting up to 3 million patients in the U.S. Up to one third of all epilepsies are resistant to treatment with antiepileptic medication and may be associated with other disabilities such as intellectual impairment and autism. Severe epilepsies are particularly devastating in children. In many patients with severe epilepsies, no cause for the seizures can be identified, but there is increasing evidence that genetic factors may play a causal role.

The research teams used a method called family-based exome sequencing, which looks at the part of the human genome that carries the blueprints for proteins. When comparing the sequence information in children with epilepsy with that of their parents, the researchers were able to identify the de novo changes that arose in the genomes of the affected children. While de novo changes are increasingly recognized as the genetic cause for severe seizure disorders, not all de novo changes are necessarily disease-causing.

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Large International Study Pinpoints Synapse Genes with Major Roles in Severe Childhood Epilepsies

Mary-Claire King has argued that all young women should be screened for the known breast-cancer risk mutations

You probably dont recognise the name Mary-Claire King, but Im willing to bet you know this extraordinary womans work. King, a professor at the University of Washington, did her PhD with Allan Wilson in evolutionary genetics, and together they were the first to show that human and chimp are about 99 per cent identical at the DNA level.

In 1974, King took the evolutionary genetics insights she had learned during her PhD and applied them to a different problem. She started searching for genetic determinants of breast cancer. Next month, October 2014, is the 20th anniversary of the mapping of the first breast cancer gene.

Forty years ago, the landscape of genetics research was markedly different from today. There was not yet a single human genetic disease mapped. It was nine years before the first one, responsible for Huntingtons Disease, was linked to a specific chromosome. There was no genome sequence to look up, not even an accurate idea of how many genes are in the human genome. Many scientists thought there were as many as 100,000 genes, but the true value is closer to a humbling 22,000.

Given these scientific challenges, the best approach available to King and her research team was to use a technique called linkage mapping.

This takes advantage of the fact that as chromosomes are passed from parent to child, getting scrambled through the generations, genes that are physically close neighbours on a chromosome are more likely to stay together, unscrambled. Using this genetic insight, characteristics in this case increased susceptibility to breast cancer can be tested for proximity to known landmarks in the genome based on patterns of co-inheritance.

This work is slow and painstaking and, for about 16 years, King and her relatively small research team were working on this alone. By 1990 they had narrowed down the location of a breast cancer gene (dubbed BRCA1 by King) to a comparatively small region on chromosome 17.

To give an impression of what they had done, it was as if the total length of the genome was the road from Galway to Sligo, and Kings research had narrowed down the search to Tuams main street.

At this point, the goal was in sight. Others decided to join the search in competition with King. This was dubbed the race by many commentators. More than 100 researchers were working full tilt in about a dozen labs around the world.

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Heres to the geneticist who helped map the first breast cancer gene

PUBLIC RELEASE DATE:

23-Sep-2014

Contact: Shane Canning shane.canning@biomedcentral.com 44-203-192-2243 BioMed Central @biomedcentral

Female populations have been larger than male populations throughout human history, according to research published today in the open access journal Investigative Genetics. The research used a new technique to obtain higher quality paternal genetic information to analyse the demographic history of males and females in worldwide populations.

The study compared the paternally-inherited Y chromosome (NRY) with maternally inherited mitochondrial DNA (mtDNA) of 623 males from 51 populations. The analysis showed that female populations were larger before the out-of-Africa migration and remained so throughout almost all subsequent migrations. The main drivers of this trend are likely to be processes such as polygyny, where one male mates with many females, and the fact that in most societies, women tend to move to live with their husbands. This has resulted in females making a greater genetic contribution to the global population than males.

Previous research on genetic history has used different techniques to analyse NRY and mtDNA, which has led to an ascertainment bias in the results. In this study, researchers from the Max Planck Institute for Evolutionary Anthropology developed a high-resolution Y chromosome sequencing assay that allowed them to get paternal and maternal histories of similar quality and resolution, so they could make a direct comparison. The results confirmed previous findings that when comparing human populations on a global scale, there are greater genetic differences in paternal NRY than in mtDNA. However, these differences are not as large as previously thought and the authors were surprised to see substantial variation in relative amounts of NRY vs. mtDNA differentiation at the regional level.

The authors argue that using this new technique, greater analysis can be undertaken at a regional level to create a clearer picture of the paternal and maternal influences on specific populations. In the African populations they studied, they saw lower paternal genetic diversity, which may be a direct result of the Bantu expansion into eastern and southern Africa beginning about three thousand years ago. In samples taken from the Americas, initial results suggest higher maternal genetic diversity, indicating that there were fewer males than females among the original colonisers.

Dr. Mark Stoneking, Department of Evolutionary Genetics, Max Planck Institute, an author on the paper, said: "Our new sequencing technique removes previous biases, giving us a richer source of information about our genetic history. It allows us to take a closer look at the regional differences in populations, providing insights into the impact of sex-biased processes on human genetic variation."

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Newswise The Genetics Society of America today announced new appointments to the editorial board of its flagship journal GENETICS. The recent additions complement the renewed focus of the peer-reviewed, peer-edited journal in the areas of genomics, human genetics, and methods, among other fields.

The newest members of the board bring cutting-edge expertise and reflect the changing, interdisciplinary landscape of our field, while exemplifying GENETICS reputation for rigorous scholarship, said Mark Johnston, Editor-in-Chief of GENETICS and Professor and Chair, Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine. Theyre already adding to the momentum of the journals transformation over recent years.

Two former Associate Editors have also taken on Senior Editor roles to lead the journals expanded coverage of methods and technology development:

New methods and technologies often drive important discoveries in genetics, and the journal welcomes papers that describe these new approaches, said Fields.

The new Statistical Genetics and Genomics section will handle articles describing statistical methods, which were formerly published in the Methods, Technology, and Resources section.

Statistics is an integral part of our field, so its only fitting that it has a dedicated section and its own team of Associate Editors, said Churchill.

The new Senior Editors are joined by several Associate Editor appointments this year:

New Editor Details: Hugo J. Bellen Baylor College of Medicine & Howard Hughes Medical Institute GENETICS Associate Editor, Developmental and Behavioral Genetics http://flypush.imgen.bcm.tmc.edu/lab/index.html

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New Editors Join GENETICS, the Flagship Journal of the Genetics Society of America

Heidi Richmond walks her dog, Grizz, who is being treated with the canine melanoma vaccine. The medication is a form of immunotherapy, teaching the dog's immune system to fight the cancer.

Ray Boone, Deseret News

MURRAY The lifelong bonding between humans and dogs is eloquent. Dogs are loved as members of families. And just like family members, when they become ill, owners want them to have the best medical care.

It appears dogs and humans are much more alike genetically than was originally believed, and what's saving their lives could save human lives as well.

In fact, researchers are "going to the dogs," so to speak, to form a unique partnership.

At Cottonwood Animal Hospital in Murray, Heidi Richmond's dog "Grizz" is being treated with a vaccine that's a form of immunotherapy. The treatment is approved only for oral melanomas in dogs, but designed from human genetics. Veterinarian Nathan Cox said this kind of match-up intrigues researchers.

"The genetics of cancer in dogs is very similar to what it is in people," Cox said, "and that allows us a baseline to be able to study cancer in an alternate species."

With traditional therapy, a dog with melanoma undergoes surgery or radiation to debulk the tumor, he said. Dogs' average lifespan after treatment, without the vaccine, is usually less than six months.

"It's (the vaccine) really changed the game," Cox said. "It's been more effective than chemotherapy has been for oral melanoma in dogs."

For Grizz and other dogs with cancer, this human genetic product is different enough to trigger an immune response, but similar enough to the dogs' own melanoma to cross react, training the immune system to attack the cancer cells.

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Cancer treatment for dogs could one day save humans

Mutations in the human retinoblastoma protein gene are a leading cause of eye cancer. Now, Michigan State University scientists have turned to fruit fly eyes to unlock the secrets of this important cancer gene.

In a paper featured on the cover of the current issue of the Journal of Biological Chemistry, Michigan State University researchers provide the first detailed examination of a set of mutations similar to those present in the human cancer gene, said Irina Pushel, MSU undergraduate and co-author.

"By systematically evaluating mutations of increasing severity, we now have a model to better predict how we think the protein will react with each mutation," said Pushel, who co-authored the paper with Liang Zhang, lead author and MSU graduate student, and Bill Henry and David Arnosti, MSU molecular biologists. "We're trying to understand the protein, not even in the specific context of cancer, but rather studying how it interacts within the cell, how it interacts with DNA."

The protein, retinoblastoma, would appear to play a key role in everything. When it's healthy, it helps control cell growth and development. If absent, the organism would die. In its abnormal state cells can overgrow, as seen in cancer, or undergo premature death, as in other human diseases.

Since fruit flies are essentially tiny people with wings, in terms of genetics, these model organisms can play a key role in advancing human medicine.

"If we find one of these mutations in a human, then we can predict what will happen with the protein, such as folding incorrectly," Pushel said. "This isn't going to immediately lead to a new drug to treat cancer. However, we have to know how the protein works before we can develop a drug to fix it. Future medicines will be built upon models such as this, though that is years away."

Previous work has shown that a specific part of this protein plays a role in regulating other genes. In this study, the team modified some of the known important parts of this region of retinoblastoma.

Boosting levels of even standard, or wild-type, protein altered fruit flies eyes and wings. However, when levels of the mutated protein began to climb, deformations were consistent and dramatic.

While a cancer treatment based on this finding may be years away, the insight and understanding into cell development and gene regulation is immediate, Pushel said.

"That's the cool thing about basic research; it may not lead directly to the creation of a new drug, but it helps decipher the genetic code, which for each person controls the unique pattern of how they grow and how they develop -- that's amazing," she said. "It will have many impacts, from understanding development to personalized medicine."

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Abnormal properties of cancer protein revealed in fly eyes

PUBLIC RELEASE DATE:

18-Sep-2014

Contact: Wolfgang Enard enard@bio.lmu.de 49-089-218-074-339 Ludwig-Maximilians-Universitt Mnchen

The ability to acquire and creatively manipulate spoken language is unique to humans. "The genetic changes that occurred over the past 6 million years of human evolution to make this possible are largely unknown, but Foxp2 is the best candidate gene we now have," says Wolfgang Enard, Professor of Anthropology and Human Biology at LMU. In his efforts to understand the molecular biological basis of language Enard has now taken an important step forward. The results of his latest study, undertaken in collaboration with scientists at several universities, including the Massachusetts Institute of Technology in Cambridge and the Max Planck Institute for Evolutionary Anthropology, have recently appeared in the journal Proceedings of the National Academy of Sciences (PNAS).

The human homolog of Foxp2 codes for a protein a so-called transcription factor that regulates the activity of hundreds of genes expressed in various mammalian cell types. Individuals who carry only one functional copy of the gene instead of the usual two experience specific difficulties in learning to speak and in language comprehension. "Genetic mutations that occurred during the 6 million years since our lineage diverged from that of chimpanzees have resulted in localized alterations in two regions of the Foxp2 protein. That is quite striking when one considers that the normal mouse version differs from that found in chimps by only a single mutation, although these two species are separated by over 100 million years of evolution. The question is how the human variant of this transcription factor contributes to the process of language acquisition," says Enard.

Enard and his coworkers had previously shown that the alterations in the human gene for Foxp2 specifically affect certain regions of the brain. When the two human-specific substitutions were introduced into the mouse version of the gene, he and his team observed anatomical changes exclusively in two neuronal circuits in the basal ganglia of the mouse cortex, which are involved in the control of motor function. "These circuits play a crucial role in the acquisition of habitual behaviors and other cognitive and motor capabilities," Enard explains.

Conscious and unconscious learning processes

In their latest work with the same mouse model, Enard and his collaborators found that, under certain conditions, the human version of Foxp2 actually enhances learning. "We have shown for the first time that the evolved alterations in the human gene have an effect on learning ability. The human version modifies the balance between declarative and motor neuron circuits in the brain. As a result, the mice take less time to associate a given stimulus with the appropriate response, and hence learn more rapidly," says Enard.

Learning to speak clearly requires interactions between conscious "declarative" knowledge and the unconscious effects of repetitive stimulation of particular patterns of neural activity. "As we learn, the underlying neuronal processes become automated, they are converted into routine procedures, enabling us to learn faster," Enard explains. Using various tests, the researchers demonstrated that the human-specific mutations enhance cooperative interactions between the two affected circuits in the basal ganglia of the mouse brain. "The human variant of the Foxp2 gene modulates the associative and sensorimotor nerve connections formed, as well as levels of the neurotransmitter dopamine in the basal ganglia, during the learning process. The increased ability to switch between conscious and unconscious forms of learning may play a role in the acquisition of language," Enard concludes.

Foxp2 is the only gene so far that has been shown to be directly associated with the evolution of language, and studies of Foxp2 function promise to throw new light on the evolution of the human brain. The mutation that first revealed the link with language was discovered in a kindred, many of whose members displayed severe speech difficulties, primarily as a consequence of defective control of the muscles of the larynx, the lips and the face.

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Language evolution: Quicker on the uptake

PUBLIC RELEASE DATE:

18-Sep-2014

Contact: Raeka Aiyar press@genetics-gsa.org 202-412-1120 Genetics Society of America @GeneticsGSA

Life is rarely simple. From crop yields to disease risks, the biological characteristics people care most about are usually those considered "complex traits." Just as for heightthe textbook example of a complex traitattributes like risk for a particular human disease are shaped by multiple genetic and environmental influences, making it challenging to find the genes involved. To track down such genes, geneticists typically mate two individuals that differ in key waysfor example, a large mouse and a small mouseand then study their descendents, looking for genes that tend to be inherited with the trait value of interest. But this method only implicates a broad genomic region, and the identities of the crucial gene/s often remain a mystery.

Now, geneticists are embracing a powerful approach that pinpoints more precise areas of the genome by founding the breeding population with multiple, genetically diverse parents. To encourage innovations in this rapidly developing field, the Genetics Society of America journals GENETICS and G3: Genes|Genomes|Genetics today published the first articles in an ongoing special collection on mapping complex trait genes in multiparental populations.

The 18 articles describe methods and applications in a wide range of organisms, including mice, fruit flies, and maize. Among the advances reported are the creation of a multiparental population of wheat, methods for use with the Diversity Outbred and Collaborative Cross mouse populations, and the identification of nicotine resistance genes in fruit flies. The power of the approach for disease genetics is highlighted in an article describing how a multiparental rat population was used to find a human gene variant that affects insulin levels.

"These collections of multiparental strains are extremely powerful and greatly accelerate discovery. For example, in one of the articles, researchers report using a multiparental population to rapidly identify fruit fly genome regions associated with the toxicity of chemotherapy drugs. The authors could then examine these regions to find several candidate causative genes," said Dirk-Jan de Koning, Professor at the Swedish University of Agricultural Sciences, Deputy Editor-in-Chief, Complex Traits, at G3, and an editor of the new collection. "Using standard two-parent crosses, they would have been stuck with unmanageably large regions each containing hundreds or even thousands of candidate genes."

Because the field is so new, geneticists are still developing the best methods for creating and analyzing multiparental populations. "This collection will move the field forward by stimulating discussion between different disciplines and research communities," said Lauren McIntyre, Professor at the University of Florida, and an editor of the collection. "To help foster this ongoing exchange, the collection will continue to publish new articles, and all associated data will be freely available."

In an editorial, McIntyre and de Koning describe how the idea for the multiparental populations collection was born and how scientific society journals like GENETICS and G3 can advance new research fields.

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Want to link genes to complex traits? Start with more diversity

WEDNESDAY, Sept. 17, 2014 (HealthDay News) -- Present-day Europeans are the descendants of at least three groups of ancient humans, according to a new study.

Previous research suggested that Europeans descended from indigenous hunter-gatherers and early European farmers. But, a new genetic analysis involving ancient bone samples revealed they are also the descendants of Ancient North Eurasians. Nearly all present-day Europeans have genetic material from this third ancestral group, researchers from Harvard Medical School said.

In conducting its investigation into Europeans' heritage, the team of researchers collected and sequenced the DNA of more than 2,300 people currently living around the world. They also examined DNA from nine ancient humans from Germany, Luxembourg and Sweden.

The ancient samples were taken from the bones of eight hunter-gatherers who lived about 8,000 years ago, and one farmer who lived about 7,000 years ago.

"Ancient DNA has emerged as a powerful technology that makes it possible to go back in time to understand how people in the past relate to people today," study co-senior author, David Reich, professor of genetics at Harvard Medical School, said in a university news release.

About 7,500 years ago in Europe, agriculture from the Near East brought early farmers into contact with hunter-gatherers who had been living in Europe for tens of thousands of years. Nearly all Europeans are the result of the mixing of these two ancient populations.

"There was a sharp genetic transition between the hunter-gatherers and the farmers, reflecting a major movement of new people into Europe from the Near East," noted Reich.

The study's authors found, however, Ancient North Eurasians also contributed DNA to present-day Europeans. Ancient North Eurasians also likely contributed DNA to people who crossed the Bering Strait into the Americas more than 15,000 years ago, according to the researchers.

"Nearly all Europeans have ancestry from all three ancestral groups," explained the study's first author, Iosif Lazaridis, a research fellow in genetics in Reich's lab.

"Differences between them are due to the relative proportions of ancestry. Northern Europeans have more hunter-gatherer ancestry -- up to about 50 percent in Lithuanians -- and Southern Europeans have more farmer ancestry," Lazaridis said in the news release.

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Europeans Are Descendants of at Least 3 Ancient Human Groups: Study

Dogs, humans attack cancer together

By Ed Yeates

September 18th, 2014 @ 7:02pm

SALT LAKE CITY It appears dogs and humans are much more alike genetically than we believed, and what's saving their lives could save our lives as well. In fact, researchers are "going to the dogs," so to speak, to form a unique partnership.

And why shouldn't they?

The lifelong bonding between humans and dogs is eloquent. We love them as members of our families. Their loyalty to us is boundless. And now, that bond goes much deeper.

At Cottonwood Animal Hospital, Heidi Richmond's dog Grizz is being treated with a vaccine that's a form of immunotherapy. The treatment is approved only for oral melanomas in dogs, but designed from human genetics. Veterinarian Nathan Cox says this kind of match-up intrigues researchers.

"The genetics of cancer in dogs is very similar to what it is in people, " he said. "That allows us a baseline to be able to study cancer in an alternate species."

For Grizz and other dogs with cancer this human genetic product is different enough to trigger an immune response but similar enough to the dogs own melanoma to cross react training the immune system to attack the cancer cells.

"We have dogs living out past three to four years with the vaccine, so it's more than doubled survival times and in some dogs," Cox said. "It's actually resulted in a cure for their disease."

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Dogs, humans attack cancer together

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Newswise The Genetics Society of America today announced new additions to the editorial board of its peer-reviewed, peer-edited journal G3: Genes|Genomes|Genetics. Since the journals launch in June 2011, its editorial board of academic experts has been instrumental in shaping G3 into an important forum for the publication of useful genetics findings and resources.

As the breadth of research published in the journal continues to grow, Editor-in-Chief Brenda Andrews, PhD, has appointed two new Deputy Editors-in-Chief, who will contribute to the oversight of key sections:

Also, Stephen Wright, PhD, University of Toronto, has been appointed as a new Senior Editor for Population and Evolutionary Genetics and Genomics and will spearhead the journals efforts to strengthen coverage of in this area.

The new Deputy Editors-in-Chief and Senior Editor are joined by several new Associate Editor appointments to the editorial board this year:

Genetics is a fast-paced field. The expanded editorial board will help us keep up with the growing volume and diversity of research being submitted to G3, said Brenda Andrews, G3: Genes|Genomes|Genetics Editor-in-Chief and Professor and Chair of the Banting & Best Department of Medical Research, University of Toronto.

G3 was created by the Genetics Society of America to meet the critical and growing need of the genetics community for rapid review and publication. The journal offers an opportunity to publish the puzzling finding, useful dataset, or highly focused research that may not have been submitted for publication due to a lack of perceived impact.

New Editor Details:

Eduard Akhunov Kansas State University G3 Associate Editor

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New Editors Join G3: Genes|Genomes|Genetics, an Open Access Journal of the Genetics Society of America

Human Genetics DNA and RNA.mp4
Table of Contents: 00:00 - Methylation and acetylation 01:30 - Who #39;s in control? 01:32 - What is DNA and RNA? 02:45 - How do DNA and RNA differ? 03:56 - How ...

By: Marc Reynolds

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Human Genetics DNA and RNA.mp4 - Video

Anthropology Prof. John Hawks and UW-Madison students dig up crucial remnants of early hominids

Despite being from Kansas, Dr. John Hawks had never seen storms like he experienced in South Africa.

"They had lightning like I've never seen it," says the University of Wisconsin-Madison anthropology professor. "One day, the science tent nearly blew over in the storm. We were holding the tent, five of us inside. I had the middle pole and was pushing against it as hard as I can because the wind is pushing it the other way. I remember thinking, 'Lightning is going to strike this thing.'"

The science tent was a base of operations set up by a team of researchers outside the Rising Star Cave, a site about 40 miles outside of Johannesburg. In November 2013, Hawks and a team of scientists from around the world arrived there to investigate the discovery of a chamber filled with human bones.

"We really expected when we started that we were there for one skeleton, and that was going to be super important," says Hawks, one of the excavation's lead researchers.

Hawks is one of the world's foremost scholars in human evolution, gaining popularity for the work he's done in relating human genetics to Neanderthals. He is an alumnus of Kansas State University and the University of Michigan, where he earned his Ph.D. in anthropology.

"He is very generous with his knowledge, but also expects his students to be self-motivated, and to learn independently, which is excellent training for an academic career," says Alia Gurtov, a doctoral student of Hawks, and a researcher on the Rising Star team.

Hawks has also taught a free massive open online course (or MOOC) called "Human Evolution: Past and Future" through the popular open access website Coursera. In it, students follow Hawks around the world as he films excavation sites and interviews fellow scientists.

Hawks is now posting some of those interviews on his personal blog at johnhawks.net, which he updates regularly and uses to do science outreach. "It has a lot of professionals who are readers, and people use it in their classes a lot," he says. "Through that, I've really become attentive to people who are doing a lot of outreach work."

In fact, Hawks became connected to Rising Star's lead researcher Lee Berger through his blog. Berger, discoverer of the early human ancestor Australopithecus sediba, is a professor at the University of Witwatersrand in Johannesburg and a National Geographic explorer-in-residence.

Original post:

Anthropology Prof. John Hawks and UW-Madison students dig up crucial remnants of early hominids

PUBLIC RELEASE DATE:

16-Sep-2014

Contact: PLOS Biology biologypress@plos.org PLOS

We respond to infections in two fundamental ways. One, which has been the subject of intensive research over the years, is "resistance," where the body attacks the invading pathogen and reduces its numbers. Another, which is much less well understood, is "tolerance," where the body tries to minimise the damage done by the pathogen. Now an elegant study using data from a large Swiss cohort of HIV-infected individuals gives us a tantalising glimpse into why some people cope with HIV better than others.

The authors find that tolerance varies substantially between individuals, that it's determined at least partly by the genes that one inherits, and that the genes that influence tolerance of HIV are distinct from those that influence resistance. The team, led by Roland Regoes at ETH Zurich, publishes their work on 16th September in the open access journal PLOS Biology.

HIV offers a unique opportunity to tease apart the way that the human body handles disease. After the initial infection event, the virus takes up residence in a population of white blood cells called CD4+ T cells. The number of viruses a few months after infection, called the "set-point viral load," can be used to measure resistance how well a person is fighting the virus. However, HIV infection also offers a ready measure of tolerance the slower you lose your CD4+ T cells, the better you are tolerating the infection. This situation of cohabitation between human and virus can last many years, but when the number of CD4+ T cells falls below a critical level (fewer than 200 cells per microliter of blood) then the immune system is compromised and the HIV carrier becomes an AIDS patient, with potentially fatal consequences, if not treated.

The key to the study is the existence of the Swiss HIV Cohort Study, started in 1988, this provided the authors with more than 3000 HIV-infected people in whom they could measure both set-point viral load and the rate of CD4+ T cell loss. These two values could be used to simultaneously assess both resistance and tolerance, and combining these with a wealth of demographic and genetic data on the same individuals allowed the authors to start to explore the workings of tolerance.

The first question they asked was whether age and sex matter. On average, they found, men and women tolerated HIV equally well, but older people had a lower tolerance, with the disease progressing almost twice as fast in a 60-year old as in a 20-year old.

The authors then looked at hereditary factors that influence tolerance of HIV. They looked at genetic differences that are known to be associated with resistance to HIV and asked whether these were also associated with tolerance. The answer was an overwhelming "no," confirming the expectation that resistance and tolerance are biologically distinct phenomena.

However, one gene that is involved in resistance also seemed to be involved in tolerance. The HLA-B gene, which encodes a protein involved in recognition of pathogens by the immune system, varies considerably between individuals. Although some of these variants are known to influence a person's resistance to HIV, the authors found that other variants of the same gene correlated with tolerance. So this key player in the immune system seems to influence both tolerance and resistance, but in distinct ways.

Link:

The genetics of coping with HIV

A team of international scientists have found 10 genes with high levels of mutations which they believe could lead to intellectual disabilities including autism.

Professor of Human Genetics at the University of Adelaide, Dr Jozef Gecz, said the landmark study was essentially looking for patterns and genetic mutations.

"This work really maps a map of a human genome, starting from about 29,000 children with these disabilities, and about 20,000 controls," he said.

The team, including scientists from Australia, set out to find genetic mutations that lead to common intellectual disabilities, including autism and language problems.

"We look at the differences which are consistent, and of course, statistically, mathematically, significant," Professor Gecz said.

"And then the group at the University of Washington in Seattle actually interrogates a selected number of genes, in this case about 26, for next level possible mutations, to see whether there were differences."

The team found 10 genes with high levels of mutations, which they believe could lead to intellectual disabilities that present differently in each case.

"What it tells us is that these genes for autism, learning disability, and perhaps some of the psychiatric problems, or behavioural problems, are actually the same - they just may present in different individuals as an almost different disease," Professor Gecz said.

The findings could lead to better screening for learning disorders, and hopefully one day, treatment.

"That's what we're hoping for, that's really our aim in the long run," he said.

Read the rest here:

Scientists discover possible genetic link to autism, developmental disorders

A team of international scientists have found 10 genes with high levels of mutations which they believe could lead to intellectual disabilities including autism.

Professor of Human Genetics at the University of Adelaide, Dr Jozef Gecz, said the landmark study was essentially looking for patterns and genetic mutations.

"This work really maps a map of a human genome, starting from about 29,000 children with these disabilities, and about 20,000 controls," he said.

The team, including scientists from Australia, set out to find genetic mutations that lead to common intellectual disabilities, including autism and language problems.

"We look at the differences which are consistent, and of course, statistically, mathematically, significant," Professor Gecz said.

"And then the group at the University of Washington in Seattle actually interrogates a selected number of genes, in this case about 26, for next level possible mutations, to see whether there were differences."

The team found 10 genes with high levels of mutations, which they believe could lead to intellectual disabilities that present differently in each case.

"What it tells us is that these genes for autism, learning disability, and perhaps some of the psychiatric problems, or behavioural problems, are actually the same - they just may present in different individuals as an almost different disease," Professor Gecz said.

The findings could lead to better screening for learning disorders, and hopefully one day, treatment.

"That's what we're hoping for, that's really our aim in the long run," he said.

Continue reading here:

Scientists discover genetic link to autism, developmental disorders

PUBLIC RELEASE DATE:

15-Sep-2014

Contact: Sharon Parmet sparmet@uic.edu 312-413-2695 University of Illinois at Chicago @uicnews

A cancer drug that has shown promise against Alzheimer's disease in mice and has begun early clinical trials has yielded perplexing results in a novel mouse model of AD that mimics the genetics and pathology of the human disease more closely than any other animal model.

The drug, bexarotene, was found to reduce levels of the neurotoxic protein amyloid-beta in experimental mice with late-stage Alzheimer's but to increase levels during early stages of disease.

The finding, by researchers at the University of Illinois at Chicago College of Medicine, was reported online in The Journal of Biological Chemistry by Mary Jo LaDu, who in 2012 developed a transgenic mouse that is now regarded as the best animal model of the human disease. That experimental mouse carries a human gene that confers on people a 15-fold elevated risk of developing AD, making it the most important known genetic risk factor for the disease.

Alzheimer's disease is the most common form of dementia, affecting more than five million Americans. The disease is progressive and eventually fatal. One of the hallmarks of AD is the appearance of dense plaques in the brain composed of clumps of amyloid-beta. But recent research indicates that smaller, soluble forms of amyloid-beta -- rather than the solid plaques -- are responsible for the death of nerve cells that leads to cognitive decline.

Humans carry a gene for a protein in cells called apolipoprotein E, which helps clear amyloid-beta from the brain by binding to it and breaking it down. LaDu's mice carry the most unfortunate variant in humans, called APOE4, or APOE3, which is neutral for AD risk.

"APOE4 is the greatest genetic risk factor for Alzheimer's disease," said LaDu, who is professor of anatomy and cell biology at UIC. "Our previous work showed that compared to APOE3, the apolipoprotein produced by the APOE4 gene does not bind well to amyloid-beta and so does not clear the neurotoxin from the brain."

Results of previous studies in mice of bexarotene's effect on AD have been mixed, and none of those studies were done in mice that carry a human APOE gene and also develop progressive, AD-like pathology. The UIC research presented in Copenhagen is the first to do so.

See the original post here:

Drug's effect on Alzheimer's may depend on severity of disease