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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


  • April 28, 2016: UC San Diego bioengineers create first online search engine for functional genomics data New
    From University of California San Diego:
    University of California San Diego bioengineers have created what they believe to be the first online search engine for functional genomics data. This work from the Sheng Zhong bioengineering lab at UC San Diego was just published online by the journal Nucleic Acids Research. This new search engine, called GeNemo, addresses a pressing challenge: effectively searching functional genomic data from online data repositories. Funding for this work was provided in part by the National Human Genome Research Institute.
  • April 27, 2016: MicroRNA Pathway Could Lead to New Avenues for Leukemia Treatment New
    From University of Cincinnati:
    Cancer researchers at the University of Cincinnati have found a particular signaling route in microRNA (miR-22) that could lead to targets for acute myeloid leukemia, the most common type of fast-growing cancer of the blood and bone marrow.These findings are being published in the April 26 issue of the online journal Nature Communications. The research was funded in part by the Intramural Research Program of National Human Genome Research Institute.
  • April 7, 2016: Rare DNA will have nowhere to hide New
    From Rice University: Rice University bioengineer David Zhang recognizes the difficulty of finding specific sequences of DNA in a tiny sample of blood that holds as many as 100 million billion nucleotides, the molecular units that, strung together, make up the genetic code. His ideas for improving the odds are great enough for the National Institutes of Health (NIH) to invest in them. He has been awarded a pair of prestigious NIH R01 grants - one of which is from the National Human Genome Research Institute - to develop novel therapeutic tools . The grant will allow his lab at Rice's BioScience Research Collaborative to develop probes that help next-generation sequencing (NGS) find and profile disease-causing DNA sequence variants by removing the vast majority of healthy sequences from view.
  • April 4, 2016: Single-gene mutations account for only 2 percent of cases of severely elevated cholesterol New
    From Massachusetts General Hospital: A study from an international research team finds that familial hypercholesterolemia (FH) - a genetic condition that causes greatly elevated levels of low-density lipoprotein (LDL) cholesterol throughout life - accounts for less than two percent of severely elevated LDL in the general population. But the team also found that the risk of coronary artery disease is significantly higher in individuals with FH than in people with similarly elevated LDL levels who do not have these mutations. The report is receiving advance online publication in the Journal of the American College of Cardiology to coincide with a presentation at the American College of Cardiology's 65th Annual Scientific Session.  The work was supported in part by the National Human Genome Research Institute.
  • March 25, 2016: Unique Repertoires of DNA Binding Activities [BWH Clinical & Research News Blog] New
    From Brigham and Women's Hospital: Mitochondrial diseases - which affect 1 in 5,000 people - encompass a spectrum of disorders with an array of symptoms. Many patients with a mitochondrial disease experience neurological symptoms, including intellectual disability, childhood epilepsy and autism spectrum disorder, but why dysfunctional mitochondria - the powerhouses of cells -lead to these sorts of symptoms has been unclear.In a paper published on March 31 in Cell Reports, BWH investigators shed light on what may be the root cause of these neurological symptoms by tracing the development of interneurons. NHGRI helped fund the research.
  • March 7, 2016: Genes in spotted gar could boost biomedical use of zebrafish
    From University of Oregon: A primitive and slowly evolving fish, the spotted gar, is so much like zebrafish and humans that it can serve as a bridge species capable of leading to more powerful biomedical research on human diseases, say UO researchers. In a comprehensive, international research effort, led by the UO in collaboration with the Broad Institute at MIT and Harvard University, researchers sequenced the genome of the spotted gar - an ancient fish with hard, diamond-shaped scales and a long mouth filled with needle-like teeth. Their work is detailed in a paper published online by the journal Nature Genetics. The work was supported in part by the National Human Genome Research Institute.
  • March 1, 2016: Advisory committee to address framework for building medical information commons
    From Baylor College of Medicine: Dr. Amy McGuire, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine, the Leon Jaworski Professor in Biomedical Ethics, and an expert in the ethics of genomic studies, was awarded a $2.2 million grant from the National Human Genome Research Institute to support the Building the Medical Information Commons: Participant Engagement and Policy project. The project seeks to develop an ethical and policy framework for building a medical information commons - a networked environment in which diverse sources of health, medical and genomic data on large populations become broadly available for research and clinical use.
  • February 29, 2016: Illuminating the broad spectrum of disease New
    From the Broad Institute: In a paper published in Nature Biotechnology, researchers from the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute describe a new method that dramatically simplifies an arduous experimental process in early drug discovery. Their method, called PRISM, uses a molecular barcoding system to test potential drug compounds on cancer and other cell lines at an unprecedented scale and speed. The system allows for pooling and testing of multiple cell lines simultaneously, and promises to accelerate the search for targeted therapies by better representing the broad genetic diversity of disease. NHGRI helped fund the research.
  • February 11, 2016: Neanderthal DNA has subtle but significant impact on human traits
    From Vanderbilt University: Since 2010 scientists have known that people of Eurasian origin have inherited anywhere from 1 to 4 percent of their DNA from Neanderthals. The discovery spawned a number of hypotheses about the effects these genetic variants may have on the physical characteristics or behavior of modern humans, ranging from skin color to heightened allergies to fat metabolism...generating dozens of colorful headlines including "What your Neanderthal DNA is doing for you" and "Neanderthals are to blame for our allergies" and "Did Europeans Get Fat From Neanderthals?" Now, the first study that directly compares Neanderthal DNA in the genomes of a significant population of adults of European ancestry with their clinical records confirms that this archaic genetic legacy has a subtle but significant impact on modern human biology. The work was supported in part by grants from the National Human Genome Research Institute.
  • February 4, 2016: Individuals' medical histories predicted by their noncoding genomes
    From Stanford University Medicine: Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems. Identifying mutations in the control switches of genes can be a surprisingly accurate way to predict a person's medical history. The work was supported in part by grants from the National Human Genome Research Institute.
  • January 29, 2016: Could Blood Pressure Drugs Have a Role in Alzheimer's Disease Treatment?
    From Georgetown University Medical Center: In laboratory neuronal cultures, an FDA-approved drug used to treat high blood pressure reduced cell damage often linked to Alzheimer's disease, say researchers at Georgetown University Medical Center (GUMC) and the National Institutes of Health. Published online in the Feb. 28 issue of the journal Alzheimer's Research and Therapy, the researchers say their work provides information supporting the potential effect of the drug candesartan - as well as other Angiotensin receptor blockers for the early treatment of Alzheimer's disease. The work was supported by grants from the National Institutes of Health including the National Human Genome Research Institute and the National Institute of Mental Health.
  • January 28, 2016: Broad genetic testing for childhood cancer patients can pinpoint cancer causes and identify potential treatments
    From Baylor College of Medicine: In a study led by researchers from Baylor College of Medicine and Texas Children's Cancer Center, combined whole exome tumor and blood sequencing in pediatric cancer patients revealed unexpected findings, including mutations in genes not previously associated with the specific type of cancer that had been diagnosed, pointing toward the usefulness of broad-based testing of both tumor and blood samples for children diagnosed with solid tumors. The study, which appears in the current issue of JAMA Oncology, is part of the ongoing Baylor College of Medicine Advancing Sequencing in Childhood Cancer Care (BASIC3) project funded through a $6.6 million grant from the National Human Genome Research Institute and the National Cancer Institute.
  • January 27, 2016: Schizophrenia's strongest known genetic risk deconstructed
    From the National Institute of Mental Health: Versions of a gene linked to schizophrenia may trigger runaway pruning of the teenage brain's still-maturing communications infrastructure, NIH-funded researchers have discovered. People with the illness show fewer such connections between neurons, or synapses. The gene switched on more in people with the suspect versions, who faced a higher risk of developing the disorder, characterized by hallucinations, delusions and impaired thinking and emotions. This research was funded in part by a grant from the National Human Genome Research Institute.
Genome Sequencing Program Funding News, January 14, 2016


  • December 23, 2015: Genome misfolding unearthed as new path to cancer  New
    From Broad Institute: In a landmark study, researchers from the Broad Institute and Massachusetts General Hospital reveal a completely new biological mechanism that underlies cancer. By studying brain tumors that carry mutations in the isocitrate dehydrogenase (IDH) genes, the team uncovered some unusual changes in the instructions for how the genome folds up on itself. The findings, which point to a general process that likely also drives other forms of cancer, appear in the December 23rd advance online issue of the journal Nature. The study combed through vast amounts of data from recent cancer genome projects, including The Cancer Genome Atlas (TCGA). The research was partly funded by an NHGRI ENCODE Project grant.
  • December 21, 2015: International Study Reveals New Genetic Clues to Age-Related Macular Degeneration (AMD)  New
    From the National Eye Institute: The International AMD Genomics Consortium has collected and analyzed genetic data from over 43,000 people to systematically identify common and rare variations in genetic coding - called variants -associated with AMD, a leading cause of vision loss among people age 50 and older. The findings may help improve our understanding of the biological processes that lead to AMD and identify new therapeutic targets for potential drug development. The study was funded in part by grants from the National Human Genome Research Institute.
  • December 14, 2015: Stunning diversity of gut bacteria uncovered by new approach to gene sequencing devised at Stanford
    From Stanford University: A collaboration between computer scientists and geneticists at Stanford University has produced a novel technique for mapping the diversity of bacteria living in the human gut. The new approach revealed a far more diverse community than the researchers had anticipated. "The bacteria are genetically much more heterogeneous than we thought," said Michael Snyder, Ph.D., professor and chair of genetics.Any two humans typically differ by about 1 in 1,000 DNA bases, whereas bacteria of the same species may differ by as many as 250 in 1,000, Snyder said. "I don't think people realized just how much diversity there was. The complexity we found was astounding," he said. A paper describing their work was published in the online Dec. 14 issue of Nature Biotechnology. The study was funded in part by NHGRI.
  • December 14, 2015: Study uncovers hard-to-detect cancer mutations
    From Washington University in St. Louis: New research shows that current approaches to genome analysis systematically miss detecting a certain type of complex mutation in cancer patients' tumors. Further, a significant percentage of these complex mutations are found in well-known cancer genes that could be targeted by existing drugs, potentially expanding the number of cancer patients who may benefit. The study, from Washington University School of Medicine in St. Louis, appears Dec. 14 in the journal Nature Medicine. The research was supported in part by the National Human Genome Research Institute.
  • November 17, 2015: Drug may delay, prevent blindness for millions
    From the Marshfield Clinic: A drug already used safely to treat Parkinson's disease, restless leg syndrome and other movement disorders also could delay or prevent the most common cause of blindness affecting more than 9 million older Americans - age-related macular degeneration (AMD). Researchers have discovered that patients who take the drug L-DOPA are significantly less likely to develop AMD, and if they do get AMD it's at a significantly older age, according to study published online Nov. 4 in the American Journal of Medicine?. The study, Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration, was supported in part by the National Human Genome Research Institute.
  • November 10, 2015: Genome of Sézary syndrome points to potential treatment targets
    From Baylor College of Medicine: A genomic analysis of 37 patients with Sézary syndrome, a rare form of T-cell lymphoma that affects the skin and causes large numbers of atypical T-lymphocytes (an immune system disease) to circulate, reveals mutations in genes that affect T-cell signaling and those that interfere with cell cycle checkpoints that govern cell division, said researchers from Baylor College of Medicine and The University of Texas MD Anderson Cancer Center in a report in the journal Nature Genetics. Funding for this work came, in part, from National Human Genome Research Institute (Grant 5U54HG003273).
  • November 9, 2015: GQT: Making the Most of Genomic Big Data
    From the USTAR Center for Genetic Discovery Blog: UCGD investigator Aaron Quinlan and his team have released GQT, a software tool for exploring and querying large data sets of thousands to millions of genomes. Since the first human genome was completed in 2003, sequenced genomes have accumulated at an exponential rate with scientists finishing 1,000 genomes by 2013 and 60,000 in 2015, a mere two years later. This astonishing growth in genome sequencing is predicted to continue. Over a million new human genome sequences are expected to arrive on the virtual desks of researchers by 2020. This massive data influx presents a big data challenge for genomics researchers. Computational tools that were designed to study genetic variation in one or a few genomes fall short when applied to cohorts of hundreds, thousands, and potentially millions of individuals. This work was published in the journal Nature Methods on November 9, 2015 and is supported by the National Human Genome Research Institute (NHGRI).
  • November 4, 2015: Analysis of genetic neurologic diseases identify genes that affect brain structure, function New
    From Baylor College of Medicine: In a study that appears in the journal Neuron, researchers led by those at Baylor College of Medicine and a large swath of Turkish medical professionals evaluated the genetics behind such brain disorders and malformations. They found variants of genes known to cause such problems and new mutations in genes not known to be involved before. Along with that, they identified structural deviations such as the duplications or deletions known as copy number variations in different chromosomes. The study was was supported in part by the National Human Genome Research Institute.
  • November 4, 2015: Kidney cancer's genomic drivers revealed New
    From the Oregon Health and Science University: A massive search involving cancer researchers across the U.S. and Canada has revealed many of the altered genes and cell signaling pathways that drive a poorly understood form of kidney cancer, primary papillary renal cell carcinoma.The findings, published today in the New England Journal of Medicine, should help physicians better understand the clinical risks for people with papillary kidney tumors, which account for 15 percent of kidney cancer cases. The insights also point the way to new ideas for more effective therapies.
  • October 29, 2015: NIH researchers link single gene variation to obesity New
    From Eunice Kennedy Shriver National Institute of Child Health and Human Development: According to a new study funded by the National Institutes of Health and published in the journal Cell Reports, a single variation in the gene for brain-derived neurotropic factor (BDNF) may influence obesity in children and adults. The study suggests that a less common version of the BDNF gene may predispose people to obesity by producing lower levels of BDNF protein, a regulator of appetite, in the brain. The authors propose that boosting BDNF protein levels may offer a therapeutic strategy for people with the genetic variation, which tends to occur more frequently in African Americans and Hispanics, than in non-Hispanic Caucasians. The study was funded in part by NHGRI.
  • October 27, 2015: A Newly-Discovered Tumor Suppressor Gene Affects Melanoma Survival New
    From Weizmann Institute of Science: In research that appeard in the October 26 issue of Nature Genetics a team from the Weizmann Institute of Science has revealed one of the drivers of a particularly deadly subset of melanomas - one that is still seeing a rise in new cases. This gene is a newly identified member of a group of genes called tumor suppressor genes. It is mutated in some 5.4% of melanomas. its expression was found to be lost in over 30% of human melanomas; and this loss, according to the finding, was associated with reduced patient survival. This discovery might open new doors to understanding how this cancer grows and spreads, and it may lead in the future to new directions in treating this disease. NHGRI scientists contributed to the research.
  • October 13, 2015: Genomic analysis paves way for personalized treatment of invasive lobular carcinoma
    From the Autism Science Foundation (ASF): The ASF announced the launch of the Autism Sisters Project, a new initiative that will give unaffected sisters of individuals with autism the opportunity to take an active role in accelerating research into the "Female Protective Effect". The goal is to build a large genetic database that researchers can use to explore this phenomenon and discover how the protective factor can be harnessed to help people with autism of both sexes. The ASC is supported by a cooperative agreement grant to four lead sites funded by the National Institute of Mental Health (NIMH), with additional support from the National Human Genome Research Institute (NHGRI).
  • October 8, 2015: Genomic analysis paves way for personalized treatment of invasive lobular carcinoma
    From the UNC Lineberger Comprehensive Cancer Center: UNC Lineberger Comprehensive Cancer Center researchers helped lead an effort by The Cancer Genome Atlas Network of researchers to map the genetic drivers of invasive lobular carcinoma, the second most commonly diagnosed invasive form of breast cancer. They found that this cancer type may be at least three different diseases that differ in their microenvironmental features and outcomes. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute, both of the National Institutes of Health.
  • September 29, 2015: New Hope for Undiagnosed, Critically Ill Newborns at Rady Children's
    From Rady Children's Hospital, San Diego: In his first week in office, newly recruited president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute (RPGSMI), Stephen Kingsmore, M.D., D.Sc., will participate in a major announcement. Today in Genome Medicine, Dr. Kingsmore and a team of researchers report whole-genome sequencing for diagnosis in critically ill babies in 26 hours. Prior to this, the fastest genome-based diagnosis was 50 hours, a mark set in 2012. Cutting diagnosis time in half adds precious hours for critically ill infants with unknown conditions whose bodies are rapidly failing. The work was funded by a $6 million grant from the National Human Genome Research Institute.
  • September 29, 2015: Children's Mercy Researchers Achieve 26-Hour Rapid Whole-Genome Sequencing In Critically Ill Infants
    From Children's Mercy, Kansas City: A study published today in Genome Medicine describes how researchers at Children's Mercy Kansas City cut in half the time needed for rapid whole-genome sequencing and genetic diagnosis in critically-ill infants, called STAT-Seq. Through a variety of enhancements, the Center for Pediatric Genomic Medicine at Children's Mercy completed the STAT-Seq test in 26 hours compared to 50 hours, improving on a turnaround time that was already the fastest available in the world. Children's Mercy is one of four pilot projects to explore newborn genomics through funding by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health.
  • September 28, 2015: A new single-molecule tool to observe enzymes at work
    From University of Washington: A team of scientists at the University of Washington and the biotechnology company Illumina have created an innovative tool to directly detect the delicate, single-molecule interactions between DNA and enzymatic proteins. Their approach provides a new platform to view and record these nanoscale interactions in real time. As they report Sept. 28 in Nature Biotechnology, this tool should provide fast and reliable characterization of the different mechanisms cellular proteins use to bind to DNA strands - information that could shed new light on the atomic-scale interactions within our cells and help design new drug therapies against pathogens by targeting enzymes that interact with DNA. This discovery was made in the process of designing a nanopore system with which to sequence DNA, and the new capability can in turn be used to further improve the enzymes used in that DNA sequencing system. The research was funded by the Revolutionary Sequencing Technology Development Program - $1,000 Genome - administered by the National Human Genome Research Institute.
  • September 21, 2015: Consortium Awarded $12.4 Million to Study Genetic Heart Condition
    From The Ohio State University: The Dilated Cardiomyopathy Consortium, led by Dr. Ray Hershberger at The Ohio State University Wexner Medical Center, has been awarded $12.4 million in grant funding by the National Heart Lung Blood Institute (NHLBI) and the National Human Genome Research Institute (NHGRI). The Consortium, composed of researchers at 11 clinical sites, will study the genetic basis of dilated cardiomyopathy (DCM) over the next five years. The study is called 'Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry. DCM is a condition in which the heart muscle weakens and the left ventricle enlarges. It is the most common cause for patients needing a heart transplant and it is responsible for about one in three cases of heart failure.
  • September 4, 2015: Genetic landscape can impact treatment for children with rare, aggressive cancer
    From Geisinger Health System:
    Two Geisinger researchers, leading a large team of investigators, have been awarded more than $3.5 million as part of a national effort to better understand the genetic basis of disease and to tailor medical care to people based on their genetic makeup. Marc S. Williams, M.D., director of the Genomic Medicine Institute, and Marylyn D. Ritchie, Ph.D., director of biomedical and translational informatics, will spend the next four years combining DNA sequence information and health information in thousands of patients' electronic medical records to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. They will examine and test approaches to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how family members communicate with one another. They also will look at the impact of the environment on chronic rhinosinusitis. The award from the National Institutes of Health was announced this week and is part of the Electronic Medical Records and Genomics (eMERGE) network administered by the National Human Genome Research Institute (NHGRI).
  • September 1, 2015: Genetic landscape can impact treatment for children with rare, aggressive cancer
    From University of Michigan Health System: For children with rare, aggressive and advanced cancer, precision medicine may help doctors determine their best treatment options, a new study finds. Using information from a patient's entire genome helped suggest personalized treatment options for nearly half of children with cancer, and led to specific treatment changes in a quarter of these patients, according to researchers at the University of Michigan Comprehensive Cancer Center and C.S. Mott Children's Hospital. The study includes sequencing the tumor's DNA and RNA as well as normal DNA from children and young adults with cancer that has relapsed or that is rare. Results from the first 102 patients enrolled are published in the September 1 issue of Journal of the American Medical Association. Funding for this study was provided in part by the National Institutes of Health Clinical Sequencing Exploratory Research (CSER) Consortium.
  • August 7, 2015: Scientists adopt new strategy to find Huntington's disease therapies
    From the National Institute of Neurological Disorders and Stroke: Scientists searched the chromosomes of more than 4,000 Huntington's disease patients and found that DNA repair genes may determine when the neurological symptoms begin. The results may provide a guide for discovering new treatments for Huntington's disease and a roadmap for studying other neurological disorders. For this study, scientists employed a novel application of Genome-Wide Association Study analysis, a technique that scientists typically use to search for single letter changes to the DNA code on patients' chromosomes, which may increase or decrease their chances of having the disease. This work was supported in part by grants from the National Human Genome Research Institute.
  • August 3, 2015: Researchers awarded $14 million for two precision health projects
    From Stanford School of Medicine: The National Institutes of Health has awarded the Stanford School of Medicine $14 million in funding for two projects that will advance the practice of precision health. The first grant is four-year, $10 million grant from the National Institute of General Medical Sciences (NIGMS) to expand their Pharmacogenomics Knowledgebase (PharmGKB). The second grant is a three-year, $4 million grant from the NIGMS and the National Human Genome Research Institute for the Clinical Pharmacogenetics Implementation Consortium (CPIC), which publishes clinical guidelines that teach healthcare providers how to use information about their patients' genetics to guide and optimize drug prescriptions.
  • July 23, 2015: Study: Glioma Tumor's Genetic Profile More Telling Than Physical Appearance
    From University of Cincinnati: In a study published the June 10 issue of New England Journal of Medicine, researchers from the researchers from the Brain Tumor Center at the University of Cincinnati (UC) Neuroscience Institute and the UC Cancer Institute discovered that some glioma tumors that appeared to be "lower grade" contained a genetic characteristic that caused them to behave like the most aggressive, high-grade gliomas, also known as glioblastoma multiforme. The study was recently published by the The Cancer Genome Atlas (TCGA) network. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.
  • July 22, 2015: Media Availability: Researchers Identify Promising Therapy for Rare Immune Disorder
    From the National Institute of Allergy and Infectious Diseases: Researchers from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and the Cincinnati Children's Hospital Medical Center report on a promising therapy for people with LRBA deficiency, a rare immune disorder that lacks effective treatments and is caused by mutations in the LRBA gene. The researchers found that the drug abatacept, which is FDA-approved for treating rheumatoid arthritis, may be an effective long-term therapy for LRBA deficiency. Furthermore, the team has discovered that LRBA protein plays a role in limiting the activity of immune cells. This work was supported in part by grants from National Human Genome Research Institute.
  • June 18, 2015: Genomic discovery of skin cancer subtypes provides potential 'signpost' for drug targets
    From MD Anderson Anderson Cancer Center: As part of The Cancer Genome Atlas (TCGA), researchers from the University of Texas MD Anderson Cancer Center identified four melanoma subtypes: BRAF, RAS, NF1 and Triple-WT, which were defined by presence or absence of mutations from analysis of samples obtained from 331 patients. The five-year study resulted from an international collaboration of over 300 researchers from more than five countries, including Australia, Germany and Canada. Results from the study were published in the June 18 issue of Cell. The TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.
  • June 15, 2015: Vulnerabilities in Genome's 'Dimmer Switches' Should Shed Light on Hundreds of Complex Diseases
    From Johns Hopkins Medicine: Up to one-fifth of human DNA act as dimmer switches for nearby genes, but scientists have long been unable to identify precisely which mutations in these genetic control regions really matter in causing common diseases. Now, a decade of work at Johns Hopkins has yielded a computer formula that predicts with far more accuracy than current methods which mutations are likely to have the largest effect on the activity of the dimmer switches, suggesting new targets for diagnosis and treatment of many diseases. A summary of the research will be published online June 15 in the journal Nature Genetics. This work was supported in part by grants from National Human Genome Research Institute.
  • June 11, 2015: Reclassifying brain tumors with precision
    From Emory University: A ground-breaking study that is part of The Cancer Genome Atlas (TCGA) Research Network will change the way patients with diffuse gliomas, a form of brain tumor, will be diagnosed and treated in the future. More than 300 researchers from 44 institutions contributed to a molecular analysis of the tumors. They found that molecular diagnostics are much more precise and reproducible than looking at tissue under a microscope for classification. This is a major step in starting to classify and treat brain tumors based on their genetic makeup rather than their microscopic appearance, which has been the traditional diagnostic approach for over 100 years. The findings are published on line in the New England Journal of Medicine. TCGA was launched by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) in 2006.
  • June 8, 2015: Stanford researchers suss out cancer mutations in genome's dark spots
    From Stanford University: Geneticist Michael Snyder, Ph.D., and postdoctoral scholar Collin Melton, Ph.D., recently combined information from The Cancer Genome Atlas, a national effort to sequence and identify mutations in the genomes of many different types of cancers, with data from the national ENCODE Project, which serves as an encyclopedia of DNA functional regions, or elements. Their aim was to better understand the roles that mutations in regulatory regions may play in cancer development. Snyder and Melton found that fewer than one of every thousand mutations in each cancer type occurs in the coding region of a gene. In contrast, more than 30 percent of the mutations occur in regulatory regions. The study was published this morning in Nature Genetics. Both ENCODE and The Cancer Genome Atlas are research programs from NHGRI.
  • May 29, 2015: Single-cell analysis hits its stride
    From the Broad Institute: The Human Genome Project gave us an incredible foundation from which to understand our potential genetic repertoire. In order to understand the actual roles of particular genes in disease, however, it is not only critical to identify genes, but also to know in which cells the genes are expressed and when. The research was funded in part by NHGRI.
  • May 29, 2015: New platforms genetically barcode tens of thousands of cells at a time
    From Harvard University: New platforms genetically barcode tens of thousands of cells at a time
    John Franklin Enders University professor Matt Kirschner and Steven McCarroll, assistant professor of genetics at HMS, reported this week in separate papers that their labs have developed high-throughput techniques to quickly, easily and inexpensively give every cell in a sample a unique genetic barcode before it goes into the blender. The research was funded in part by NHGRI.
  • May 27, 2015: Congressional Action Needed to Optimize Regulation of Genomic Tests
    From University of Houston Law: The latest generation of genomic testing offers a chance for significant improvements in patient care, disease prevention and, possibly, even the cost-effectiveness of healthcare. However, Congress needs to act to incentivize the development of the massive data systems that doctors and regulators will need to make these tests safe and effective for patients, according to researchers. The Special Report by Barbara J. Evans, Ph.D., J.D. of the University of Houston Law Center, and Wylie Burke, M.D., Ph.D. and Gail P. Jarvik, M.D., Ph.D, both of the University of Washington School of Medicine, appears ahead of print in the May 27 online edition of the New England Journal of Medicine, the leading U.S. journal of original medical research and commentary.
  • May 13, 2015: Genome: Unlocking Life's Code Opens May 15 at the St. Louis Science CenterPDF file
    From the St. Louis Science Center:
    The first state-of-the-art exhibition about genomic science, Genome: Unlocking Life's Code opens May 15, 2015 at the Saint Louis Science Center. The exhibition is the result of a unique partnership of the Smithsonian Institution, NHGRI and the National Institutes of Health.
  • April 27, 2015: Study Demonstrates Potential of Rapid Whole-Genome Sequencing in Critically Ill Infants
    From Children's Mercy Hospital, Kansas City: A study published in The Lancet Respiratory Medicine and presented at the annual Pediatric Academic Societies Meeting reveals the early results of the clinical usefulness of rapid whole-genome sequencing in neonatal and pediatric intensive care units (NICUs and PICUs). Children's Mercy Kansas City's STAT-Seq test helped diagnose a genetic disease in more than one half of 35 critically ill infants tested, compared to just nine percent with standard genetic tests. As a result of receiving a specific disease diagnosis, clinical care was refined in 62 percent of infants, including 19 percent who had a markedly favorable change in treatment, and palliative care was initiated in 33 percent. The results underscore the importance of the larger pilot project to explore newborn genomics, partially funded by the National Human Genome Research Institute (NHGRI).
  • April 15, 2015: Mathematical Technique Reveals DNA Patterns That Increase Accuracy of Ovarian Cancer Prognosis
    From the University of Utah: Nearly anyone touched by ovarian cancer will tell you: it's devastating. It's bad enough that cancer in almost 80 percent of patients reaches advanced stages before diagnosis, and that most patients are expected to die within five years. But just as painfully, roughly one quarter of women diagnosed have no warning that they are resistant to platinum-based chemotherapy, the main line of defense, nor that they will likely have 18 months to live. Now, University of Utah scientists have uncovered patterns of DNA anomalies that predict a woman's outcome significantly better than tumor stage. Published in the journal PLOS ONE, the patterns were discovered by using a new mathematical technique in the analysis of DNA profiles from the Cancer Genome Atlas, a national database containing data from hundreds of ovarian cancer patients.
  • March 19, 2015: New understanding of the inner workings of our genetic tool kit should help us make smarter repairs
    From the California Institute for Regenerative Medicine: We have made great strides in the past decade in understanding the role of DNA structural components, the so-called epigenetics, but still have major gaps in our understanding of the many roles of RNA. With CIRM-funding, a team headed by Howard Chang at Stanford has gotten around a major hurdle in unlocking this complex issue.
  • March 9, 2015: The Cancer Genome Atlas (TCGA): The next stage
    From The Cancer Genome Atlas: The Cancer Genome Atlas (TCGA), the NIH research program that has helped set the standards for characterizing the genomic underpinnings of dozens of cancers on a large scale, is moving to its next phase. TCGA was launched by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) in 2006 as a pilot project to comprehensively characterize the genomic and molecular features of ovarian cancer and glioblastoma multiforme. The program grew to include samples from 11,000 patients across 33 tumor types and represents the largest tumor collection ever to be analyzed for key genomic and molecular characteristics.
  • March 6, 2015: Unregulated web marketing of genetic tests for personalized cancer care raises concerns in new study
    From the Dana-Farber Cancer Institute: Websites that market personalized cancer care services often overemphasize their purported benefits and downplay their limitations, and many sites offer genetic tests whose value for guiding cancer treatment has not been shown to be clinically useful, according to a new study from Dana-Farber Cancer Institute. Internet marketing of cancer-related gene tests is unregulated. Therefore, there is wide variation in how these services are presented - posing a challenge for consumers and their physicians, the researchers reported in the March 5, 2015 issue of the Journal of the National Cancer Institute. NHGRI's genetic testing fact sheet was cited by the consumer health website HealthDay as a good resource for information on genetic testing.
  • March 4, 2015: Genetically speaking, mammals are more like their fathers
    From UNC at Chapel Hill: You might resemble or act more like your mother, but a novel research study from UNC School of Medicine researchers reveals that mammals are genetically more like their dads. Specifically, the research shows that although we inherit equal amounts of genetic mutations from our parents - the mutations that make us who we are instead of some other person - we actually "use" more of the DNA that we inherit from our dads. The National Human Genome Research Institute and the National Institute of Mental Health funded the creation of the UNC Center for Integrated Systems Genetics (CISGen), which contributed to the development and funding of proof of principle experiments for the Collaborative Cross to find genetic and environmental factors important in psychiatry.
  • February 18, 2015: Predicting Cancers' Cell of Origin
    From Brigham and Women's Hospital: A study led by researchers from Brigham and Women's Hospital suggests a new way to trace cancer back to its cell type of origin. By leveraging the epigenome maps produced by the Roadmap Epigenomics Program - a resource of data collected from over 100 cell types - the research team found that the unique genetic landscape of a particular tumor could be used to predict that tumor's cell type of origin. The study, which appears this week in Nature, provides new insights into the early events that shape a cancer, and could have important implications for the many cancer patients for whom the originating site of the cancer is unknown. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.
  • February 18, 2015: New Insights into 3D Genome Organization and Genetic Variability
    From the University of California San Diego: While genomics is the study of all of the genes in a cell or organism, epigenomics is the study of all the genomic add-ons and changes that influence gene expression but aren't encoded in the DNA sequence. A variety of new epigenomic information is now available in a collection of studies published Feb. 19 in Nature by the National Institutes of Health (NIH) Roadmap Epigenomics Program. This information provides a valuable baseline for future studies of the epigenome's role in human development and disease. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.
  • February 18, 2015: NIH-supported researchers map epigenome of more than 100 tissue and cell types
    From the National Institutes of Health: Much like mapping the human genome laid the foundations for understanding the genetic basis of human health, new maps of the human epigenome may further unravel the complex links between DNA and disease. The epigenome is part of the machinery that helps direct how genes are turned off and on in different types of cells.Researchers supported by the National Institutes of Health Common Fund's Roadmap Epigenomics Program have mapped the epigenomes of more than 100 types of cells and tissues, providing new insight into which parts of the genome are used to make a particular type of cell. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.
  • February 17, 2015: DNA Sequencer the size of a mobile phone
    From the University of California Santa Cruz: Investigators at the UC Santa Cruz Genomics Institute have optimized performance of a mobile-phone-sized MinIONTM DNA sequencer, marketed by Oxford Nanopore. Their work was reported in Nature Methods on February 16, 2015.The MinION device reads individual DNA strands base-by-base as they pass through a nanoscale pore (nanopore) under control of an applied voltage. This process is facilitated by an enzyme bound to the DNA. The study was supported by National Human Genome Research Institute (NHGRI).
  • February 13, 2015: Largest ever genome-wide study on body fat and BMI strengthen genetic links to obesity
    From the University of North Carolina School of Medicine: There are many reasons why two people with the same diets and exercise regimens can gain different amounts of weight and why fat becomes stored in different parts of their bodies. Now, an international collaboration of scientists, including several from the UNC School of Medicine and the UNC Gillings School of Global Public Health, has helped researchers home in on genetic reasons. Their findings were published in companion papers - genome-wide association studies - in the journal Nature.
  • January 29, 2015: Neutron Beams Reveal How Two Potential Pieces of Parkinson's Puzzle Fit
    From NIST Center for Neutron Research: A team including scientists from the National Institute of Standards and Technology (NIST), NHGRI's Dr. Ellen Sidransky, have determined how two potentially key pieces of the Parkinson's puzzle fit together, in an effort to reveal how the still poorly understood illness develops and affects its victims.
  • January 28, 2015: Evolution of marine mammals to water life converges in some genes
    From Baylor College of Medicine: When marine mammals such as whales, dolphins, manatees and walruses moved from land to water, a series of physical abilities --- limbs adapted for swimming, less dense bones that make them more buoyant and a large store of oxygen relative to their body size - made it possible. Yet these animals made the transition from land to water millions of years apart. In a report that appears online in the journal Nature Genetics, an international consortium of researchers that includes those at Baylor College of Medicine looked at the genomes of these four marine mammals and compared them to their closest land kin. The genomes of the whale and dolphin were compared to that of the cow, the walrus to the dog and the manatee to the elephant. NHGRI helped fund the research.
  • January 21, 2015: USC neuroscientists lead global ENIGMA consortium to crack brain's genetic code
    From University of Southern California: In the largest collaborative study of the brain to date, researchers from the Keck School of Medicine of the University of Southern California (USC) led a global consortium of 190 institutions to identify eight common genetic mutations that appear to age the brain an average of three years. The discovery could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions. An international team of roughly 300 scientists known as the Enhancing Neuro Imaging Genetics through Meta Analysis (ENIGMA) Network pooled brain scans and genetic data worldwide to pinpoint genes that enhance or break down key brain regions in people from 33 countries. This is the first high-profile study since the National Institutes of Health (NIH) launched its Big Data to Knowledge (BD2K) centers of excellence in 2014. BD2K involves all institutes at the NIH, including NHGRI.
  • January 16, 2015: Penn State and Geisinger announce new collaborative gene research project
    From Penn State University: Marylyn Ritchie, Ph.D., professor of biochemistry and molecular biology and director of the Center for Systems Genomics in the Huck Institutes of the Life Sciences at Penn State University, will lead a collaborative effort between Penn State and Geisinger Research to connect the genome data of 100,000 anonymous patients with their medical histories, in order to identify the genetic and environmental basis of human disease. This new program was developed to harness the data resources being generated through a large-scale DNA-sequencing project at Geisinger in collaboration with Regeneron Pharmaceuticals, where at least 100,000 Geisinger patients will be sequenced over the next five years. Dr. Ritchie is is the lead investigator in coordinating the genomic data in the eMERGE network, funded by the National Human Genome Research Institute (NHGRI).
  • January 14, 2015: Alexander Hoffmann, Douglas Black awarded NIH grant to study immune system's response to pathogens
    From UCLA: UCLA professors of microbiology, immunology and molecular genetics Alexander Hoffmann and Douglas Black have been awarded a three-year, $6 million grant from the National Institutes of Health's Genomics of Gene Regulation (GGR) program of the National Human Genome Research Institute (NHGRI). Hoffman, director of UCLA's new Institute for Quantitative and Computational Biosciences (QC Bio), conducts research to understand and decode the language of the cell. Black, a Howard Hughes Medical Institute Investigator, studies the regulation of alternative splicing in mammalian cells and the biochemical mechanisms that control changes in splice sites.
  • January 7, 2015: NIH teams with industry to develop treatments for Niemann-Pick Type C disease
    From the National Institutes of Health: Researchers from the National Institutes of Health have entered into an agreement with biotechnology company Vtesse, Inc., of Gaithersburg, Maryland, to develop treatments for Niemann-Pick disease type C (NPC) and other lysosomal storage disorders. Lysosomal storage diseases, also known as lipid storage diseases, comprise about 50 rare inherited disorders that usually affect children. NHGRI scientists contributed to the research.
  • January 6, 2015: UMMS receives $6.1 M to develop model for predicting gene expression in human dendritic cells
    From University of Massachusetts Medical School: Jeremy Luban, MD, and Manuel Garber, PhD, will be principal investigators on a three-year, $6.1 million grant to develop a model for predicting whether a given gene will be turned on or off under specific conditions. Funding for the grant comes from the recently launched Genomics of Gene Regulation (GGR) program at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. In total, $28 million in new grants aimed at deciphering the language of gene expression were awarded.

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Last Updated: April 29, 2016