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NHGRI-Related News

A listing of news releases from other National Institutes of Health (NIH) institutes and centers, academic and non-profit institutions, and scientists or scientific societies related to NHGRI-funded work.

NHGRI-Related News Archive
2005-2013 

2014 

  • October 23, 2014Thyroid cancer genome analysis finds markers of aggressive tumors New
    From the University of Michigan: A new comprehensive analysis of thyroid cancer from The Cancer Genome Atlas Research Network has identified markers of aggressive tumors, which could allow for better targeting of appropriate treatments to individual patients. The finding suggests the potential to reclassify the disease based on genetic markers and moves thyroid cancer into a position to benefit more from precision medicine. In this TCGA study, which is published in Cell, the researchers analyzed nearly 500 thyroid cancer samples to identify all genetic mutations that play a role. They found several new cancer genes as well as new variations of existing genes. The research is a part of The Cancer Genome Atlas initiative, a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. 
     
  • October 21, 2014: Study: Most respond well to genetic testing results New
    From Washington University in St. Louis: People at high risk for psychological distress respond positively to receiving results of personalized genetic testing, according to new research at Washington University School of Medicine in St. Louis. More than 60 percent of subjects in the genetic study wanted information about their test results, which detailed the risks for lung, prostate and colorectal cancers, type 2 diabetes and heart attack. And 95 percent said they appreciated receiving the information, regardless of whether the results were good or bad news. The findings, were published online in the journal Genetics in Medicine. This work was funded in part by the National Human Genome Research Institute.
     
  • October 20, 2014Whole exome sequencing closer to becoming "new family history" New
    From Baylor College of Medicine: Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. In an online report in the Journal of the American Medical Association, the scientists led by Drs. Yaping Yang, laboratory director of the Whole Genome Laboratory at Baylor, and  Christine Eng, professor of molecular and human genetics at Baylor and senior director of Baylor's Medical Genetics Laboratories, found a molecular diagnosis (meaning a genetic mutation or variation linked to a disease) in 25 percent of the large group of cases - confirming in this much larger group of patients the diagnostic yield from their initial report on the first 250 cases that appeared in the New England Journal of Medicine a little more than a year ago. Partial support for this work came from the National Human Genome Research Institute.
     
  • September 22, 2014Experts provide much-needed policy analysis for clinical integration of next generation sequencing New
    From Baylor College of Medicine: As genetic sequencing technologies continue to evolve rapidly, becoming part of clinical care, there is a critical need to establish appropriate policies and regulatory frameworks to address potential challenges, legal and ethical experts have said. A special policy issue of the Journal of Law, Medicine & Ethics published online today and edited by experts with the Center for Medical Ethics and Health Policy at Baylor College of Medicine gives policy makers the tools to jumpstart this process. Experts with the Center for Medical Ethics and Health Policy at Baylor were tapped to serve as editors of this special issue of the journal, which addressed a variety of topics including U.S. Food and Drug Administration regulation, reimbursement, intellectual property issues, and proprietary databases. They did so with the help of a $1.6 million National Human Genome Research Institute.
     
  • September 17, 2014Healthy humans make nice homes for viruses
    From Washington University in St. Louis: The same viruses that make us sick can take up residence in and on the human body without provoking a sneeze, cough or other troublesome symptom, according to new research at Washington University School of Medicine in St. Louis. On average, healthy individuals carry about five types of viruses on their bodies, the researchers report online in BioMed Central Biology. The study is the first comprehensive analysis to describe the diversity of viruses in healthy people. The research was supported by the National Human Genome Research Institute.
     
  • September 11, 2014Center to Find Drug Combinations that Reduce Side Effects
    From Mt. Sinai: A research team from the Icahn School of Medicine at Mount Sinai today received a $12 million grant from the National Institutes of Health to create a center that will screen massive data sets for new uses of existing drugs, and confirm them in human cell tests. The center's first mission will be to find FDA-approved drugs that reduce side effects when paired with hundreds of leading drugs against common, deadly diseases. The grants are a part of the LINCS program, administered through NHGRI's Division of Genome Sciences.
     
  • September 3, 2014: Sequencing of five African fishes reveals diverse molecular mechanisms underlying evolution
    From Broad Institute: In an effort to understand the molecular basis of adaptation in vertebrates, researchers sequenced the genomes and transcriptomes of five species of African cichlid fishes. A research team led by scientists at the Broad Institute of MIT and Harvard uncovered a variety of features in the cichlid genomes that enabled the fishes to thrive in new habitats and ecological niches within the Great Lakes of East Africa. In addition to helping explain the complex genomic mechanisms that give rise to incredible diversity among cichlid fishes, the findings from these "natural mutants" shed new light on the molecular process of evolution in all vertebrate species. This research, funded in part by NHGRI, appears in the Sept. 3 advanced online edition of Nature.
     
  • August 28, 2014: Ebola genomes sequenced
    From Harvard University: Responding rapidly to the deadly outbreak of Ebola virus disease (EVD) in West Africa, a team of researchers from the Broad Institute and Harvard University, working with the Sierra Leone Ministry of Health and Sanitation and researchers elsewhere, has sequenced and analyzed many Ebola virus genomes. Their findings could have important implications for rapid field diagnostic tests. The researchers hope their results (reported in the Aug. 29 issue of Science) will speed up scientific understanding of the epidemic and assist global efforts to contain it. Principal investigators from the H3Africa Initiative - a part of the NIH Common Fund - contributed to the findings.
     
  • August 27, 2014: Humans, flies, worms: Researchers work to understand gene expression across organisms
    From Stanford University: Researchers at the Stanford University School of Medicine have found that although many aspects of regulatory networks are conserved among the three distantly related organisms, other differences have emerged over evolutionary time. These differences may explain why, for example, worms slither, flies fly and humans walk on two legs, even though they all use the same basic genetic building blocks. Under the Model Organism ENCyclopedia of DNA Elements (modENCODE) Project - the research was conducted as part of a multi-institutional collaborative effort to understand more about how organisms control the expression of their genes to generate neurons, muscles, skin, blood and all of the other types of cells and tissues necessary for complex life - all at the exactly right time and place in the body. NHGRI funded the research.
     
  • August 20, 2014: Test Reliably Detects Inherited Immune Deficiency in Newborns
    From the National Institute of Allergy and Infectious Diseases: A newborn screening test for severe combined immunodeficiency (SCID) reliably identifies infants with this life-threatening inherited condition, leading to prompt treatment and high survival rates, according to a study supported by the National Institutes of Health. Researchers led by Jennifer Puck, M.D., of the University of California, San Francisco, also found that SCID affects approximately 1 in 58,000 newborns, indicating that the disorder is less rare than previously thought. The study was funded in part by NIH's National Institute of Allergy and Infectious Diseases (NIAID) and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). It appears in the Aug. 20 issue of the Journal of the American Medical Association.  Dr. Puck is a former NHGRI researcher, and the SCID newborn screening test was originally developed at NHGRI.
     
  • August 18, 2014: 8,000-Year-Old Mutation Key to Human Life at High Altitudes
    From the University of Utah: In an environment where others struggle to survive, Tibetans thrive in the thin air on the Tibetan Plateau, with an average elevation of 14,800 feet. A University of Utah led discovery that hinged as much on strides in cultural diplomacy as on scientific advancements, is the first to identify a genetic variation, or mutation, that contributes to the adaptation, and to reveal how it works. The research appears online in the journal Nature Genetics on Aug. 17, 2014. NHGRI helped fund the research.
     
  • August 8, 2014: Researchers Find Molecular Similarities Among Head and Neck, Lung, and Bladder Cancers
    From National Institute of Deafness and other Communication Disorders: Researchers at the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health (NIH), working as part of a team of scientists with The Cancer Genome Atlas (TCGA) Network, have identified a characteristic molecular pattern shared by head and neck, lung, and some bladder cancers. The molecular profile offers information that could help physicians diagnose and develop new treatment strategies for these diseases. The research is a part of The Cancer Genome Atlas initiative, a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. 
     
  • August 7, 2014: Cancer study reveals powerful new system for classifying tumors
    From UCSC: Cancers are classified primarily on the basis of where in the body the disease originates, as in lung cancer or breast cancer. According to a new study, however, one in ten cancer patients would be classified differently using a new classification system based on molecular subtypes instead of the current tissue-of-origin system. This reclassification could lead to different therapeutic options for those patients, scientists reported in a paper published August 7 in Cell. The research is a part of The Cancer Genome Atlas initiative, a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. 
     
  • August 7, 2014: Largest cancer genetic analysis reveals new way of classifying cancer
    From University of North Carolina: Researchers with The Cancer Genome Atlas (TCGA) Research Network have completed the largest, most diverse tumor genetic analysis ever conducted, revealing a new approach to classifying cancers. The work, led by researchers at the UNC Lineberger Comprehensive Cancer Center at the University of North Carolina at Chapel Hill and other TCGA sites, not only revamps traditional ideas of how cancers are diagnosed and treated, but could also have a profound impact on the future landscape of drug development. The TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. 
     
  • July 29, 2014: 23andMe Scientists Receive Approximately $1.4 Million in Funding from the National Institutes of Health 
    From 23andMe: 23andMe, the leading personal genetics company, has received from the National Institutes of Health (NIH) a grant totaling $1,367,504 for a two-year project to support the further development of 23andMe's web-based database and research engine for genetic discovery.
     
  • July 24, 2014: JAX researchers find new mechanism for neurodegeneration 
    From The Jackson Laboratory: A research team led by Jackson Laboratory Professor and Howard Hughes Investigator Susan Ackerman, Ph.D., have pinpointed a surprising mechanism behind neurodegeneration in mice, one that involves a defect in a key component of the cellular machinery that makes proteins, known as transfer RNA or tRNA.
     
  • July 21, 2014: Marmoset sequence sheds light on primate biology, evolution
    From Baylor College of Medicine: A team of scientists from around the world led by Baylor College of Medicine and Washington University in St. Louis has completed the genome sequence of the common marmoset - the first sequence of a New World Monkey - providing new information about the marmoset's unique rapid reproductive system, physiology and growth, shedding new light on primate biology and evolution. The team published the work July 20th in the journal Nature Genetics. NHGRI funded the research.
     
  • July 14, 2014: Study Finds Cause of Mysterious Food Allergy, Suggests New Treatment Strategy 
    From Cincinnati Children's: New research in Nature Genetics identifies a novel genetic and molecular pathway in the esophagus that causes eosinophilic esophagitis (EoE), opening up potential new therapeutic strategies for an enigmatic and hard-to-treat food allergy. EoE is a chronic inflammatory disorder of the esophagus. The condition is triggered by allergic hypersensitivity to certain foods and an over-accumulation in the esophagus of white blood cells called eosinophils (part of the body's immune system). EoE can cause a variety of gastrointestinal complaints including reflux-like symptoms, vomiting, difficulty swallowing, tissue scarring, fibrosis, the formation of strictures and other medical complications. NHGRI helped fund the research.
     
  • July 14, 2014: Media Availability: Scientists Deepen Genetic Understanding of Eosinophilic Esophagitis 
    From the National Institute of Allergy and Infectious Diseases:  Scientists funded by the National Institutes of Health (NIH) have identified genetic markers associated with eosinophilic esophagitis (EoE), an inflammatory disease characterized by high levels of immune cells called eosinophils in the esophagus. Their findings suggest that several genes are involved in the development of EoE, which can cause difficulty eating and often is associated with food allergies. The findings also may help explain why the disease specifically affects the esophagus. The work was supported in part by the Consortium of Food Allergy ResearchExternal Web Site Policy, which is funded by NIH's National Institute of Allergy and Infectious Diseases and National Institute of Diabetes and Digestive and Kidney Diseases, ad the National Human Genome Research Institute.
     
  • June 27, 2014: Growing Unknown Microbes One by One
    From CalTech: A new technique developed at Caltech helps grow individual species of the unknown microbes that live in the human body. Trillions of bacteria live in and on the human body; a few species can make us sick, but many others keep us healthy by boosting digestion and preventing inflammation. Employing the use of a specially designed glass chip with tiny compartments, Caltech researchers now provide a way to target and grow specific microbes from the human gut-a key step in understanding which bacteria are helpful to human health and which are harmful.
    Proceedings of the National Academy of Sciences. NHGRI funded the research. 
     
  • June 25, 2014: Nanopore technique rapidly decodes long DNA strands 
    From University of Washington Health Sciences:  A low-cost technology may make it possible to read long sequences of DNA far more quickly than current techniques.  The research advances a technology, called nanopore DNA sequencing. If perfected it could someday be used to create handheld devices capable of quickly identifying DNA sequences from tissue samples and the environment, the University of Washington researchers who developed and tested the approach said. The paper Decoding long nanopore sequencing reads of natural DNA  describes the new technique. It appears June 25 in the advanced online edition of the journal Nature Biotechnology.
     
  • June 25, 2014: Researchers hone in on way to predict aggressiveness of oral cancer 
    From Washington University in St. Louis:  Studying mouth cancer in mice, investigators at Washington University in St. Louis have found a way to predict the aggressiveness of similar tumors in people, an early step toward a diagnostic test that could guide treatment. This research was supported in part by funding from the National Human Genome Research Institute.
     
  • June 18, 2014: University of Maryland School of Medicine Researchers Receive NIH Grant to Develop Personalized Medicine Program for Genetic Types of Diabetes 
    From the University of Maryland School of Medicine:  Researchers at the University of Maryland were awarded a four-year, $3.7 million grant to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes - a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases. The project is funded by the National Human Genome Research Institute through the Implementing Genomics In Practice (IGNITE) consortium.
     
  • June 9, 2014: Longer Telomeres Linked to Risk of Brain Cancer 
    From the University of California San Francisco: New genomic research led by UC San Francisco scientists reveals that two common gene variants that lead to longer telomeres, the caps on chromosome ends thought by many scientists to confer health by protecting cells from aging, also significantly increase the risk of developing the deadly brain cancers known as gliomas. The research was published online in Nature Genetics on June 8, 2014. Data from individuals participating in The Cancer Genome Atlas project, which is sponsored by the National Cancer Institute and National Human Genome Research Institute, helped support the research.
     
  • June 4, 2014: Chipping away at the cause behind rare tumors
    From Baylor College of Medicine: A new study by an international collaboration of researchers, including those from Baylor College of Medicine, has uncovered the underlying mutations in intracranial germ cell tumors, which could lead to new therapeutic targets.  The findings were published in a recent edition of the journal Nature. The research was supported in part by funding from National Human Genome Research Institute.
     
  • April 24, 2014: International collaboration unravels novel mechanism for neurological disorder
    From Baylor College of Medicine: A team of international scientists led by Baylor College of Medicine has discovered a novel gene (CLP1) associated with a neurological disorder affecting both the peripheral and central nervous systems. Together with scientists in Vienna they show that disturbance of a very basic biological process, tRNA biogenesis, can result in cell death of neural progenitor cells. This leads to abnormal brain development and a small head circumference as well as dysfunction of peripheral nerves.The study published today in the current issue of the journal Cell. Funding for this work was provided in part by the National Human Genome Research Institute.
     
  • April 24, 2014: Genetic legacy from the Ottoman Empire: Single mutation causes rare brain disorder
    From Yale: An international team of researchers have identified a previously unknown neurodegenerative disorder and discovered it is caused by a single mutation in one individual born during the height of the Ottoman Empire in Turkey about 16 generations ago.The genetic cause of the rare disorder was discovered during a massive analysis of the individual genomes of thousands of Turkish children suffering from neurological disorders. Two papers published in the April 24 issue of the journal Cell document the devastating effects of a mutation in the CLP1 gene. Funding for the study was provided in part by the National Human Genome Research Institute.
     
  • April 24, 2014: Researchers Discover New Genetic Brain Disorder in Humans 
    From UCSD: A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell. By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells. Insights into this rare disorder, the researchers said, may have important implications for the future treatment of more common neurological conditions. Funding for the study was provided in part by the National Human Genome Research Institute.
     
  • April 23, 2014: With "The Drama of DNA," Bioethicists Use Theatrical Narratives To Bridge the Gap Between Society and Science
    From the Johns Hopkins Berman Institute of Bioethics: A pair of bioethics experts have added "playwright" to their resumes in an effort to aid the genomics community in grappling with an onslaught of ethical issues as genomic science transitions to bedside healthcare, a decade after the human genome was first sequenced.
     
  • April 11, 2014: Yeast provides genetic clues on drug response
    From the University of British Columbia: Researchers at the University of British Columbia exposed 6,000 strains of yeast to 3,000 drugs. Yeast strains were modified so their response could be measured. Researchers found that the yeast cells have about 50 main ways in which they react to any drug.These 50 major response types, known as gene signatures, are like fingerprints that identify all genes and their relevance to a specific drug treatment. This relatively small number of gene signatures means that it might be possible to eventually use a person's genome to predict their drug response. It could also make it easier to identify more effective therapies. The study was published in the April 10 issue of Science. The study was supported in part by a grant from the National Human Genome Research Institute.
     
  • April 7, 2014: Amino acid fingerprints revealed in new study 
    From Arizona State University: Stuart Lindsay and his colleagues at Arizona State University's Biodesign Institute have taken a major step in demonstrating the accurate identification of amino acids, by briefly pinning each in a narrow junction between a pair of flanking electrodes and measuring a characteristic chain of current spikes passing through successive amino acid molecules. The new work advances the prospect of clinical protein sequencing and the discovery of new biomarkers-early warning beacons signaling disease. Further, protein sequencing may radically transform patient treatment, enabling precise monitoring of disease response to therapeutics, at the molecular level. The group's research results are reported in the advanced online edition of the journal Nature Nanotech. The current research received funding from the National Institute of Health's National Human Genome Research Institute (NHGRI). 
     
  • March 19, 2014: Scientists Describe Gut Bacteria that Cause Sepsis in Preterm Infants 
    From the National Institute of Allergy and Infectious Diseases: Researchers studying intestinal bacteria in newborns have characterized the gut bacteria of premature infants who go on to develop sepsis, a serious and potentially life-threatening condition caused by bacteria in the bloodstream. Their findings suggest new strategies for the early detection and prevention of severe bloodstream infections. The research was funded by several components of the National Institutes of Health (NIH)-the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Human Genome Research Institute (NHGRI), the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the NIH Common Fund-and other organizations. The research is published in the March 19 issue of Clinical Infectious Diseases.
     
  • March 18, 2014: Study of complete RNA collection of fruit fly uncovers unprecedented complexity
    From Indiana University: Scientists from Indiana University are part of a consortium that has described the transcriptome of the fruit fly Drosophila melanogaster in unprecedented detail, identifying thousands of new genes, transcripts and proteins. In the new work, published Sunday, March 16, in the journal Nature, scientists studied the transcriptome - the complete collection of RNAs produced by a genome - at different stages of development, in diverse tissues, in cells growing in culture, and in flies stressed by environmental contaminants. To do so, they used contemporary sequencing technology to sequence all of the expressed RNAs in greater detail than ever before possible.  The 41 co-authors of the study were from 11 universities and institutes that are members of the National Human Genome Research Institute's Model Organism Encyclopedia of DNA Elements project, or modENCODE.
     
  • March 16, 2014: Vast Gene-Expression Map Yields Neurological and Environmental Stress Insights 
    From Lawrence Berkeley National Laboratory: A consortium led by scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) has conducted the largest survey yet of how information encoded in an animal genome is processed in different organs, stages of development, and environmental conditions. Their findings paint a new picture of how genes function in the nervous system and in response to environmental stress.They report their research this week in the Advance Online Publication of the journal Nature. The research was funded by the National Human Genome Research Institute modENCODE Project.
     
  • March 14, 2014: Taking immune cells for a test drive 
    From the Broad Institute: A team of Broad scientists, collaborating with colleagues at Brigham and Women's Hospital (BWH) and Harvard Medical School (HMS), recently demonstrated how combining sophisticated biological experimentation on human white blood cells with advanced computational methods can help explain the functional impact of human genetic variation on immune disease. The new work appeared in the March 7 issue of Science. The study incorporates data from 1000 Genomes and ENCODE and was supported in part by CEGS, PECASE and institutional training grants from NHGRI.
     
  • March 13, 2014: Detecting, Testing, Treating Rare Diseases: Technology Delivers New Era of Personalization
    From Cedars-Sinai: A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai - specialists in identifying and treating very rare diseases - used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development. The study, published March 3 in the Annals of Clinical and Translational Neurology, has sixteen contributing authors, including William A. Gahl, M.D., Ph.D., clinical director, NHGRI.
     
  • March 10, 2014: New genetic cause of children's liver disease discovered 
    From Kings College London: The discovery of a 'faulty gene' in children with liver disease could pave the way for new treatments for children with a range of serious and life-threatening liver conditions. The findings - published on March 9th in Nature Genetics - follow two years of research by doctors and scientists at King's College London and King's College Hospital, both part of King's Health Partners AHSC. An NHGRI grant helped fund the research.
     
  • March 3, 2014: Media Availability: NIH Team Identifies New Genetic Syndrome 
    From the National Institute of Allergy and Infectious DiseasesResearchers at the National Institutes of Health (NIH) have identified a new genetic syndrome characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive impairment. The researchers, led by scientists at the NIH's National Institute of Allergy and Infectious Diseases (NIAID), observed that the syndrome's diverse symptoms are the result of mutations in a single gene associated with sugar metabolism. They plan to evaluate certain types of sugars as a potential treatment for people with this rare genetic condition in an upcoming clinical trial. The study, published in the Journal of Allergy and Clinical Immunology, was conducted by scientists from NIAID, the National Human Genome Research Institute and the National Institute of Neurological Disorders and Stroke, all components of NIH, and collaborators.
     
  • March 3, 2014: Media Availability: Study of Antibody Evolution Charts Course toward HIV Vaccine 
    From the National Institute of Allergy and Infectious DiseasesIn an advance for HIV vaccine research, a scientific team has discovered how the immune system makes a powerful antibody that blocks HIV infection of cells by targeting a site on the virus called V1V2. Many researchers believe that if a vaccine could elicit potent antibodies to a specific conserved site in the V1V2 region, one of a handful of sites that remains constant on the fast-mutating virus, then the vaccine could protect people from HIV infection. Analyses of the results of a clinical trial of the only experimental HIV vaccine to date to have modest success in people suggest that antibodies to sites within V1V2 were protective. The new findings point the way toward a potentially more effective vaccine that would generate V1V2-directed HIV neutralizing antibodies. The research, published in the journal Nature, is from a collaboration of authors, including Jim Mullikin, director of the NIH Intramural Sequencing Center, administered by NHGRI. 
     
  • March 3, 2014: Study pinpoints protective mutations for type 2 diabetes  
    From the Broad InstituteAn international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk factors such as obesity and old age. The results focus the search for developing novel therapeutic strategies for type 2 diabetes; if a drug can be developed that mimics the protective effect of these mutations, it could open up new ways of preventing this devastating disease. NHGRI helped fund the research.
     
  • February 28, 2014: First of its kind web portal to bolster research and treatment for rare diseases
    From Children's Hospital of Eastern Ontario: A new web portal - PhenomeCentral - is being launched today as a resource for clinicians and scientists worldwide to learn about the existence of cases similar to their own and to eventually improve the understanding of disorder symptoms and underlying causes. The NIH Undiagnosed Diseases Program, administered by the National Human Genome Research Institute is a founding partner in the PhenomeCentral consortium.
     
  • February 28, 2014: New method IDs working copies of genes in human cells; could help diagnose sick tissues early
    From Harvard Medical School: In biology, as in real estate, location matters. Working copies of active genes - called messenger RNAs or mRNAs - are positioned strategically throughout  living tissues, and their location often helps regulate how cells and tissues grow and develop. Now a team at the Wyss Institute of Biologically Inspired Engineering at Harvard University and Harvard Medical School, in collaboration with the Allen Institute for Brain Science, has developed a new method that allows scientists to pinpoint thousands of mRNAs and other types of RNAs at once in intact cells - all while determining the sequence of letters, or bases, that identify them and reveal what they do. The project was funded by NHGRI's Centers of Excellence in Genomic Science.
     
  • February 10, 2014: Shortening guide RNA markedly improves specificity of CRISPR-Cas nucleases
    From Massachusetts General Hospital: A simple adjustment to a powerful gene-editing tool may be able to improve its specificity.  In a report receiving advance online publication in Nature Biotechnology, Massachusetts General Hospital (MGH) investigators describe how adjusting the length of the the guide RNA (gRNA) component of the synthetic enzymes called CRISPR-Cas RNA-guided nucleases (RGNs) can substantially reduce the occurrence of DNA mutations at sites other than the intended target, a limitation the team had previously described just last year. NHGRI helped fund the study.
     
  • January 30, 2014: Study uncovers molecular keys to invasive bladder cancer, points to potential drug targets - including some found in other cancers
    From MD Anderson Cancer Center: The once sketchy landscape of the molecular defects behind bladder cancer now resembles a road map to new, targeted treatments thanks to the unified efforts of scientists and physicians at 40 institutions. Deep molecular analysis of 131 muscle-invasive bladder cancer tumors found recurring defects in 32 genes for the cancer that currently has no targeted therapies.  Findings by The Cancer Genome Atlas (TCGA) Research Network are published in the journal Nature. The TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. 
     
  • January 24, 2014:  Study expands the cancer genomics universe
    From The Broad InstituteA landmark study across many cancer types reveals that the universe of cancer mutations is much bigger than previously thought. By analyzing the genomes of thousands of patients' tumors, a Broad Institute-led research team has discovered many new cancer genes - expanding the list of known genes tied to these cancers by 25 percent. Moreover, the study shows that many key cancer genes still remain to be discovered. The team's work, which lays a critical foundation for future cancer drug development, also shows that creating a comprehensive catalog of cancer genes for scores of cancer types is feasible with as few as 100,000 patient samples. Funding for these studies was provided in part by the National Human Genome Research Institute.
     
  • January 22, 2014:  New studies show that many rare mutations contribute to schizophrenia risk
    From The Broad Institute: Researchers from the Broad Institute and several partnering institutions have taken a closer look at the human genome to learn more about the genetic underpinnings of schizophrenia. In two studies published this week in Nature, scientists analyzed the exomes, or protein-coding regions, of people with schizophrenia and their healthy counterparts, pinpointing the sites of mutations and identifying patterns that reveal clues about the biology underlying the disorder. Funding for these studies was provided in part by the National Human Genome Research Institute.
     
  • January 22, 2014: NIH and Appistry Partner to Implement Genetic Analysis Pipeline for Undiagnosed Diseases Program
    From Appistry: Appistry, Inc., a leading provider of high-performance computing and analytics solutions for next-generation medicine, is partnering with the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) to implement a unique genetic-analysis pipeline for patient diagnosis. Assembled by the NIH and brought into production by Appistry, the pipeline considers family genetics to narrow the search for the genetic changes that underlie many rare and undiagnosed diseases. NHGRI helped establish the Undiagnosed Diseases Program.
     
  • January 22, 2014: Study shows 1 in 5 women with ovarian cancer has inherited predisposition
    From Washington University in St. Louis: A new study conservatively estimates that one in five women with ovarian cancer has inherited genetic mutations that increase the risk of the disease, according to research at Washington University School of Medicine in St. Louis. Most women in the study would have been unaware of a genetic predisposition to ovarian cancer because they didn't have strong family histories that suggested it.The research, published Jan. 22 in Nature Communications, is the first large-scale analysis of the combined contributions of inherited and acquired mutations in a major cancer type. NHGRI helped fund the study.
     
  • January 19, 2014: Decoded: DNA of blood-sucking worm that infects world's poor
    From Washington University in St. Louis: Going barefoot in parts of Africa, Asia and South America contributes to hookworm infections, which afflict an estimated 700 million of the world's poor. The parasitic worm lives in the soil and enters the body through the feet. By feeding on victims' blood, the worms cause anemia and, in children, stunted growth and learning problems. Now, researchers at Washington University School of Medicine in St. Louis have decoded the genome of the hookworm, Necator americanus, finding clues to how it infects and survives in humans and to aid in development of new therapies to combat hookworm disease. The research is published Jan. 19 in Nature Genetics. The genome sequencing and annotation work was funded by NHGRI.
     
  • January 9, 2014: Elephant shark genome decoded
    From Washington University in St. Louis: An international team of researchers has sequenced the genome of the elephant shark, a curious-looking fish with a snout that resembles the end of an elephant's trunk. The elephant shark and its cousins the sharks, rays, skates and chimaeras are the world's oldest-living jawed vertebrates. But their skeletons are made of cartilage rather than bone, making this group of vertebrates an oddity on the evolutionary tree.

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Last Updated: October 24, 2014