Category Archives: Human Genetics

How much does it cost to sequence a genome? A question often posed to NHGRI staff is "How much does it cost to sequence a human genome?" This is a timely question, as human genome sequencing is expanding from research tool to major clinical diagnostic test. To help everyone understand the cost, NHGRI recently developed a summary and infographic called The Cost of Sequencing a Human Genome to clarify how the cost of generating a human genome sequence is calculated. Read the summary | Read the infographic Gut bacteria co-evolved with animal hosts, offers human evolution clues Based on the DNA sequence of a moderately conserved gene in all bacteria, researchers have found that bacterial strains diverged and began to evolve separately in the guts of humans and chimpanzees 5 million years ago, and in humans and gorillas 15 million years ago. These dates are similar to when humans and apes evolved into a new species. It may now be possible to determine if this mutually beneficial relationship between gut bacteria and their animal hosts contributed to the formation of a new species. A perspective on the research from NHGRI Senior Investigator Julie Segre, Ph.D., appeared in the July 22 issue of Science. Read the perspective | Read the study Researchers advance treatment possibilities for Gaucher, Parkinson's National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. These findings demonstrate how insights from a rare disorder can have direct relevance to the treatment of more common disorders. Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Parkinson's disease affects more than 1 million people in North America and 7-10 million people worldwide. The findings were published July 12 in The Journal of Neuroscience. Read more Progeria cure remains elusive but new therapeutic options are emerging Development of a cure for Hutchinson-Gilford progeria syndrome (HGPS), a rare disease that causes rapid aging in children, remains elusive, NIH Director Francis Collins, M.D., Ph.D., wrote in a July 12 editorial in Circulation. But therapeutic options are emerging, and there is momentum in the basic and clinical research communities. His comments appeared in the same issue as findings of a new clinical trial that combines three drugs for the treatment of HGPS. Read Dr. Collins' editorial Read about the clinical trial Media Availability Genetics of type 2 diabetes revealed in unprecedented detail A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published July 11 in the journal Nature, reveal the complexity of the disease in more detail than previously appreciated and also identify several promising targets for new treatments. Read more

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National Human Genome Research Institute

Y.W. Kans pioneering research into the hemoglobinopathies sickle cell anemia and thalassemia has widely impacted genetic research, diagnostics, and treatment of human disease. The Institute for Human Genetics is proud to recognize Y.W. Kan with a symposium honoring his decades-long contributions.

Y.W. Kan arrived at UCSF in the 1970s when he and many others (including Herb Boyer and Bishop & Varmus) helped usher in the era of molecular genetics. With long-time collaborator Andre Dozy, he discovered the first polymorphism in human DNA by Southern blot analysis in 1978, launching the ability to map genes on human chromosomes.

He and another long-time collaborator, Judy Chang, used those same techniques in 1979 to show how missing genes cause disease. He is the recipient of many national and international awards for his contributions. He continues to investigate the treatment of these diseases using stem cell and iPS cell therapies.

The Symposium will feature presentations from James Gusella, Katherine High, Dennis Lo, Bertram Lubin, Robert Nussbaum, Stuart Orkin, and Griffin Rodgers. Stuart Orkin will be featured as the 2015 Charles J. and Lois B. Epstein Visiting Professor.

Featured topics will includegene mapping, gene therapy, hemoglobinopathies, and non-invasive prenatal testing.

The IHG Symposium will be held November 2, 2015 at 1:00-6:30 in Cole Hall on the UCSF Parnassus campus and will include a poster session and awards.

IHG Symposium website|Register Now

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The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies.

The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions.

Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. Our faculty and staff welcome inquiries from prospective students. We also hope that a quick look at our web pages will give you a better idea of the Department's research and educational activities.

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While most of us recover from influenza after a week, it can be a very severe disease, and even fatal in rare cases, with no reason for physicians to have expected such an outcome. By analysing the genome of a little girl who contracted a severe form of influenza at the age of two and a half years, researchers at the Laboratory of Human Genetics of Infectious Diseases (a joint French-American international laboratory), which brings together researchers from Inserm, Paris Descartes University, and physicians from the Paris public hospitals (AP-HP; Necker Hospital for Sick Children), working at the Imagine Institute, and from The Rockefeller University in New York, have discovered that she has a genetic mutation, unknown until now, that causes a subtle dysfunction in her immune system. More generally, these results show that genetic mutations could be the root cause of some severe forms of influenza in children, and indicate in any event that immune mechanisms missing in this little girl are needed for protection against this virus in humans. These results are published in the journal Science.

Seasonal influenza is an acute viral infection caused by the influenza virus. It is characterised by high fever, headaches, sore muscles, etc. Apart from vaccination, there is no treatment for it other than symptomatic (pain) treatment. In most cases, patients recover after a week, but in more vulnerable people influenza can cause acute respiratory distress, which is potentially fatal.

The main known risk factors for severe forms of influenza are some acquired comorbidities, such as chronic lung disease. However, the cause of most fatal cases remains unexplained, especially in children.

The absence of cases of severe influenza in patients with known acquired immunodeficiencies, which usually increase susceptibility to infections, is also surprising.

Given these different observations, the researchers at Jean-Laurent Cassanova's and Laurent Abel's laboratory, in Paris and New York, therefore formulated a hypothesis whereby severe influenza in healthy children might be the result of genetic errors.

To test this hypothesis, they sequenced the entire genome of a 7-year-old child who had contracted a severe form of influenza (influenza A virus strain H1N1), requiring her admission to a paediatric intensive care unit in January 2011, at the age of two and a half years. At the time, she showed no other known pathology that might have suggested greater vulnerability to the virus than that of other children.

This analysis, combined with analysis of her parents' genomes, made it possible to show that the little girl had inherited a mutated allele of the gene encoding interferon regulatory factor (IRF7) from both of her parents. The latter is a transcription factor known to amplify the production of interferons in response to viral infection in mice and humans.

In contrast to her parents, in whom the mutation of a single allele of the gene is of no consequence, in the little girl, mutation of both alleles of the gene encoding IRF7 has led to its inactivation. The result: failure to produce interferons, disrupting her system of defence against influenza virus infection in a cascading manner.

By carrying out a comprehensive series of experiments on blood cells, particularly dendritic cells, and by generating lung cells from stem cells taken from the young girl, the researchers provided proof that the mutations observed in this little girl explain the development of severe influenza. Furthermore, this discovery demonstrates that interferon amplification dependent on IRF7 expression is needed for protection against influenza virus in humans. They now need to search for mutations in this or other genes in other children recruited following an episode of unexplained severe influenza.

Based on these initial observations, the researchers at Inserm believe that therapeutic strategies based on recombinant interferons, available in the pharmacopoeia, could help to combat severe forms of influenza in children.

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What if the severity of our seasonal influenza were related to our genetic background?

A group of scientists has created artificial human sperm and eggs using human embryonic stem cells and skin cells. While researchers have already previously accomplished this using rodents, this is the first time they were able to replicate the process with human cells.

Their final products were not actually working sperm and eggs, but rather germ cells that potentially could mature and become viable for fertility. The study's findings were published Wednesday in the journal Cell.

"Germ cells are 'immortal' in the sense that they provide an enduring link between all generations, carrying genetic information from one generation to the next," Azim Surani, PhD, professor of physiology and reproduction at the University of Cambridge, said in a press release.

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Sperm wear hard hats and live for days? It's true, and that's just the beginning...

When an egg is fertilized by a sperm, it begins to divide into a group of cells called a blastocyst, which is the stage right before the embryo is formed. Some of the cells inside this blastocyst cluster will develop into a fetus, while others eventually become the placenta.

Some cells are set up to become stem cells, which will then have the potential to develop into any type of cell in the body. And some cells in the fetus become primordial germ cells and eventually evolve into the cells of either sperm or eggs, which will allow this offspring to pass their genes on to a future generation.

In the study, the researchers identified a single gene known as SOX17, which is directly responsible for ordering human stem cells to become the cells that will turn into sperm and eggs. The scientists say this discovery on its own is surprising, because this gene is not involved in the creation of primordial cells in rodents. In humans, the SOX17 gene is also involved in helping to develop cells of the lungs, gut and pancreas.

The scientists harvested these cells by culturing human embryonic stem cells for five days. They then showed that the same process could be replicated using adult skin cells.

This doesn't mean men and women will soon be donating skin cells rather than sperm and egg at fertility clinics. Eventually, however, the findings could open the door to more intensive research on human genetics and certain cancers, and could impact fertility treatments sometime in the future.

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Scientists create artificial human eggs and sperm

LA JOLLA, California, Oct. 31, 2014 /PRNewswire/ -- Human Longevity, Inc. (HLI), a biological data-driven human health technology and cell therapy company, today announced the addition of Barry Merriman, Ph.D., as Vice President of Global Technology Assessmentand Paul Mola, M.S. as Head of Global Solutions. The two will work together in HLI's new Global Solutions Initiative to seek strategic business opportunities worldwide.

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HLI's Global Solutions Initiative is aimed at business partnerships with a variety of customers including foreign governments, large national healthcare systems, and global disease or health-focused charities interested in undertaking population-scale genomic and personalized medicine initiatives. Dr. Merriman and Mr. Mola will engage with these entities to offer enterprise solutions, and services and business opportunities customized to empower and accelerate these projects. This includes access to HLI's comprehensive human biological database, coupled with the company's proprietary computational infrastructure and analytical software solutions.

"We are pleased to welcome Barry and Paul to the HLI team as they bring unique and varied scientific, technological and business expertise," said J. Craig Venter, PhD, HLI's Co-founder, Chairman, and Chief Executive Officer. "Their knowledge of the global genomics market, coupled with their strong scientific and technology backgrounds and ability to translate this experience into successful global partnerships will be invaluable to HLI."

Dr. Merriman commented, "My goal has always been to use science and technology to advance human health and longevity. HLI is unique in pursuing a complete and integrated approach to this, with the focus, resources and scale required for success, and with an endpoint of truly revolutionizing health care. I am very excited to work with leaders globally on ways for HLI to empower their efforts to improve health and solve disease in their populations."

Mr. Mola added, "HLI's focused investment to create an unmatched, end-to-end infrastructure for population scale projects will enable the most advanced clinical capabilities for solving some of the common diseases of aging. I am pleased to be joining HLI and am eager to help the company realize its mission of comprehensive integration of genomic advances, cellular therapeutics, and health information technology, to create an unprecedented knowledge base of patient biological data to effect health care change on a global scale."

Dr. Merriman comes to HLI most recently from Life Technologies (now a Division of Thermo Fisher Scientific, Inc.), where he was the Lead System Architect for Advanced DNA Sequencing Technology, and co-founder and CSO of the Enterprise Genomics Solutions group. In these roles he established and guided the company's overall strategy and portfolio in sequencing technology, and architected national scale genomics projects. Prior to this, Dr. Merriman was on the faculty of UCLA for 20 years, where he led interdisciplinary research efforts in human genetics, genomic technology, as well as math, physics and engineering. Dr. Merriman has a Ph.D. in Applied Math from The University of Chicago.

Paul Mola, M.S., MSEL, also comes to HLI from Life Technologies, where he was Head of Strategy and Chief of Staff for their Genetic Systems Division. There, he founded their Enterprise Genomics Solutions Group, which established the business model for supporting national scale translational genomics projects, including their first global flagship initiative, the Saudi Human Genome Project in Saudi Arabia. Mola previously served in product development and commercial capacities at Applied Biosystems and Roche Diagnostics. Mola earned an M.S. in Biotechnology from Cochin University of Science and Technology and a MSEL from the University of San Diego, School of Business.

About Human Longevity, Inc.HLI, a privately held company headquartered in San Diego, CA was founded in 2013 by pioneers in the fields of genomics and stem cell therapy. Using advances in genomic sequencing, the human microbiome, proteomics, informatics, computing, and cell therapy technologies, HLI is building the world's most comprehensive database of human genotypes and phenotypes as a basis for a variety of commercialization opportunities to help solve aging related disease and human biological decline. HLI will be licensing access to its database, and developing new diagnostics and therapeutics as part of their product offerings. For more information please visit, http://www.humanlongevity.com

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Human Longevity, Inc. Hires Industry Experts Barry Merriman, Ph.D., and Paul Mola, M.S. to Lead New Global Solutions ...

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9-Oct-2014

Contact: Mary Beth O'Leary moleary@cell.com 617-397-2802 Cell Press @CellPressNews

Neurodevelopmental disorders such as Down syndrome and autism-spectrum disorder can have profound, lifelong effects on learning and memory, but relatively little is known about the molecular pathways affected by these diseases. A study published by Cell Press October 9th in the American Journal of Human Genetics shows that neurodevelopmental disorders caused by distinct genetic mutations produce similar molecular effects in cells, suggesting that a one-size-fits-all therapeutic approach could be effective for conditions ranging from seizures to attention-deficit hyperactivity disorder.

"Neurodevelopmental disorders are rare, meaning trying to treat them is not efficient," says senior study author Carl Ernst of McGill University. "Once we fully define the major common pathways involved, targeting these pathways for treatment becomes a viable option that can affect the largest number of people."

A large fraction of neurodevelopmental disorders are associated with variation in specific genes, but the genetic factors responsible for these diseases are very complex. For example, whereas common variants in the same gene have been associated with two or more different disorders, mutations in many different genes can lead to similar diseases. As a result, it has not been clear whether genetic mutations that cause neurodevelopmental disorders affect distinct molecular pathways or converge on similar cellular functions.

To address this question, Ernst and his team used human fetal brain cells to study the molecular effects of reducing the activity of genes that are mutated in two distinct autism-spectrum disorders. Changes in transcription factor 4 (TCF4) cause 18q21 deletion syndrome, which is characterized by intellectual disability and psychiatric problems, and mutations in euchromatic histone methyltransferase 1 (EHMT1) cause similar symptoms in a disease known as 9q34 deletion syndrome.

Interfering with the activity of TCF4 or EHMT1 produced similar molecular effects in the cells. Strikingly, both of these genetic modifications resulted in molecular patterns that resemble those of cells that are differentiating, or converting from immature cells to more specialized cells. "Our study suggests that one fundamental cause of disease is that neural stem cells choose to become full brain cells too early," Ernst says. "This could affect how they incorporate into cellular networks, for example, leading to the clinical symptoms that we see in kids with these diseases."

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The American Journal of Human Genetics, Chen et al.: "Molecular convergence of neurodevelopmental disorders."

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Multiple neurodevelopmental disorders have a common molecular cause