Category Archives: Human Genetics

The Hidden | To Kill Them is My Cause
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By: Erik Martin

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The Hidden | To Kill Them is My Cause - Video

PUBLIC RELEASE DATE:

2-Oct-2014

Contact: Arantxa Mena amena@idibell.cat 34-932-607-282 IDIBELL-Bellvitge Biomedical Research Institute

The bond between humans and dogs is strong and ancient. From being the protector of the first herds in a faithful pet, dogs and people share many aspects of life. The relationship between the two species has been studied by psychologists, anthropologists, ethnologists and also by genetic and molecular biologists. In this sense, dogs are a great model for understanding the causes of human diseases, especially cancer.

Unlike other mammals used in research, dogs develop cancer spontaneously as humans do and cancer is the most common cause of death in this species. The dog genome has been obtained in recent years, but we still don't know how is controlled and regulated, what we call the epigenome.

This week the team led by Manel Esteller, director of the Program for Epigenetics and Cancer Biology (PEBC) at Bellvitge Biomedical Research Institute (IDIBELL), Professor of Genetics at the University of Barcelona and ICREA researcher, has characterized the dog's epigenome and transferred the results to human cancer to understand the changes in appearance of tumors. The finding is published this week in the journal Cancer Research.

"We have characterized the epigenome level of each nucleotide of DNA of cells from the cocker species spaniel. In these canine cells we induced a morphological change similar to what happens in cancer progression and we have seen displayed significant alterations in the modulation of genes, called epigenetic lesions "says Manel Esteller.

"The interesting thing is that when we looked the same dog genes in human breast cancer, epigenetic aberrations occur in the same regions of DNA. Data suggests the existence of common epigenetic mechanisms in both species that have been evolutionarily conserved to change the shape and consistency of our cells and tissues, "concludes the researcher.

Study results suggest that act pharmacological action on these epigenetic alterations may be helpful in slowing disease progression.

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Dog's epigenome gives clues to human cancer

Released: 30-Sep-2014 9:00 AM EDT Embargo expired: 1-Oct-2014 6:30 AM EDT Source Newsroom: Duke Medicine Contact Information

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Newswise DURHAM, N.C. A new genetic finding from Duke Medicine suggests that some people who are prone to hostility, anxiety and depression might also be hard-wired to gain weight when exposed to chronic stress, leading to diabetes and heart disease.

An estimated 13 percent of people, all of whom are Caucasian, might carry the genetic susceptibility, and knowing this could help them reduce heart disease with simple interventions such as a healthy diet, exercise and stress management.

Genetic susceptibility, psychosocial stress and metabolic factors act in combination to increase the risk of cardiovascular disease, said Elizabeth Hauser, Ph.D. director of Computational Biology at the Duke Molecular Physiology Institute. Hauser is senior author of a study detailing the findings in the Oct. 1, 2014, online issue of the European Journal of Human Genetics.

Hauser and colleagues analyzed genome-wide association data from nearly 6,000 people enrolled in the Multi-Ethnic Study of Atherosclerosis (MESA). The MESA study began in 2000 to better understand how heart disease starts, compiling the participants genetic makeup as well as physical traits such as hip circumference, body mass index, cholesterol readings, glucose levels, blood pressure and other measures.

In the Duke analysis, the researchers first pinpointed a strong correlation between participants who reported high levels of chronic life stress factors and increased central obesity, as measured by hip circumference.

They then tested genetic variations across the genome to see which ones, in combination with stress, seemed to have the biggest influence on hip circumference. It turns out that variations called single-nucleotide polymorphisms (SNPs) in the EBF1 gene showed a strong relationship with hip circumference, depending on levels of chronic psychosocial stress. Whats more, among those with this particular genotype, hips grew wider as stress levels increased.

With further analysis, we found a significant pathway from high chronic life stress to wide hip circumference, to high blood glucose and diabetes, to increased cardiovascular disease, notably atherosclerosis, said Abanish Singh, Ph.D., a researcher in computational biology at Duke and the studys lead author. But we found this only in people who were carriers of the EBF1 single-nucleotide polymorphism, and this was limited to participants who were white.

The researchers reproduced their findings using data from another study, the Framingham Offspring Cohort.

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Gene Interacts with Stress and Leads to Heart Disease in Some People

Having trouble getting pregnant -- even 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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The above story is based on materials provided by Federation of American Societies for Experimental Biology. Note: Materials may be edited for content and length.

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Synthetic sperm protein raises the chance for successful in vitro fertilization

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 ...

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

London, Sep 25 (IANS): In developments which could lead to books on human evolutionary history being rewritten, new DNA analysis has found that women outnumbered men throughout humanity.

Studying DNA samples of 623 males from 51 populations around the world, researchers took the DNA samples from each male and compared the paternally inherited Y chromosome (NRY) with mitochondrial DNA (mtDNA), passed by mothers to their children.

The genetic findings offered evidence of polygyny - when one man has many wives, Live Science reported.

These practices resulted in females making a larger genetic contribution to the global population than males did, the study noted.

According to the findings, females migrated more than males did, spreading their female mitochondrial DNA far and wide and reducing genetic variability between populations.

Men stayed put which resulted in their sons having distinct genes in each population.

"For much of human history, a greater proportion of women in the population reproduced relative to men," explained lead researcher Mark Stoneking, a professor from the Max Planck Institute for Evolutionary Anthropology in Germany.

The paper appeared in the journal Investigative Genetics.

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Women outnumbered men throughout human history: Study

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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New analysis of human genetic history reveals female dominance