December 19, 2016: New Study Identifies Which Physical Features Are Best Indicators of Down Syndrome in Diverse Populations
From Children's National Health System: Physical features vary in patients with Down syndrome across diverse populations, according to a large international study published in the January 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used an objective digital facial analysis technology developed by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children's National Health System to identify the most relevant facial features characteristic in Down syndrome in diverse populations from 12 countries. This NHGRI study is the first to compare and contrast Down syndrome across diverse populations.
December 13, 2016: DNANexus & TCGA: Reanalyzing the World's Largest Pan-Cancer Initiative Dataset
From DNA Nexus: The Cancer Genome Atlas (TCGA), a joint effort between the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), was established in 2006 to create a detailed catalog of genetic mutations responsible for cancer using next-generation sequencing. Over the years, TCGA collaborators have generated over 2.5 petabytes of data collected from nearly 11,000 patients, describing 34 different tumor types (including 10 rare cancers) based on paired tumor and normal tissue sets. "In addition, mutation calling for TCGA samples was primarily done for individual tumor types, with projects using different mutation callers or different versions of the callers, meaning the data wasn't uniform," said Carolyn Hutter, PhD, Program Director, Division of Genomic Medicine at the NHGRI. "We now believe the best way to do analysis is to have a uniform set of calls generated by multiple mutation callers, with quality control and filtering, across multiple cancer types. That's why the TCGA team decided to go back and recall the over 10,000 exomes in TCGA and produce this multi-caller somatic mutation dataset."
December 7, 2016: Scientists can now better diagnose diseases with multiple genetic causes
From Baylor College of Medicine: Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition. The researchers anticipate that improved clinical and genetic diagnoses could lead to patients receiving more effective treatments and families benefiting from needed counseling. The study, funded in part by the National Human Genome Research Institute, was published in the New England Journal of Medicine.
November 21, 2016: NIAID-Supported Scientists Sequence, Explore the Genome of the River Blindness Parasite
From National Institute of Allergy and Infectious Diseases: Scientists have sequenced the genome of the parasitic worm responsible for causing onchocerciasis-an eye and skin infection more commonly known as river blindness. Through their work, researchers have gained insight into the workings of the parasite and identified proteins that potentially could be targeted with existing drugs or provide areas for developing new treatments. The research, which is described in a pair of papers published this week in Nature Microbiology, was conducted in part by scientists employed or supported by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. Additional funding for one of the studies was provided in part by NIH's National Human Genome Research Institute.
November 15, 2016: Researchers develop novel system for cataloging cancer gene variants
From Baylor College of Medicine: The discovery of variations in genes in tumor samples has been critical to the understanding of how cancer develops and spreads, and how to effectively treat it. Now, a multi-institutional group of researchers from the National Human Genome Research Institute-supported Clinical Genome Resource, known as ClinGen, including researchers from Baylor College of Medicine and Texas Children's Hospital, have developed a standard way to catalog gene mutations in cancers in order to enhance the use of the information in research and clinical practice. The result is the minimal variant level data, or MVLD, a uniform cataloging system that presents a standard way for researchers everywhere to refer to relevant data and information about each variant found in cancer studies. A paper published online in describes the cataloging system.
November 15, 2016: Genomic approaches can provide answers to undiagnosed primary immunodeficiency diseases
From Baylor College of Medicine: An extensive international team of physician researchers published on a comprehensive and unbiased genomic study which has led to the identification of disease-causing gene variants in 40 percent of previously undiagnosed patients with primary immunodeficiency diseases (PIDDs). The study integrates genomics to clinical care and has led to changes in clinical diagnosis and management of PIDDS. The work was supported in part by the National Human Genome Research Institute.
November 15, 2016: Simple genetic test shows promise for better outcomes in heart stent patients
From the University of Florida Health: A quick, precise genetic test can significantly reduce the risk of cardiovascular events by helping to identify more effective medication for some heart patients, a group led by University of Florida Health researchers has found. The test identifies a genetic deficiency that affects the body's ability to activate clopidogrel, a common anti-clotting drug given after a coronary artery stent is inserted. The current research was organized through a collaborative genomic medicine network funded by the NIH through NHGRI and known as Implementing Genomics in Practice, or IGNITE.
November 9, 2016: Will Unanticipated Genetic Mutations Lead to Subsequent Disease?
From Brigham and Women's Hospital: A study published Nov. 9 in the journal Science Translational Medicine is the first to show that mutations in certain cancer and cardiovascular genes put individuals at an increased risk for dominantly inherited, actionable conditions, regardless of family medical history. The study, carried out in two separate populations of African-Americans and European-Americans, finds that individuals carrying these mutations are at higher risk for developing one of these cancer or cardiac syndromes, respectively. The new work, led by Robert C. Green, M.D., MPH, of Brigham and Women's Hospital, Broad Institute and Harvard Medical School, has important implications for the use of genomic sequencing as a future clinical screening tool. The work was supported in part by the National Human Genome Research Institute.
November 3, 2016: New TSRI Study Suggests Ebola Can Adapt to Better Target Human Cells
From The Scripps Research Institute: A new study co-led by scientists at The Scripps Research Institute (TSRI) suggests that Ebola virus gained a genetic mutation during the 2013-16 epidemic that appears to have helped it better target human cells. The research, published November 3, 2016 in the journal Cell, found that the version of Ebola virus carrying the mutation, called GP-A82V, emerged early in the epidemic before Ebola virus cases began increasing exponentially. Overall, the scientists estimate that the GP-A82V version of Ebola virus caused about 90 percent of infections in the recent outbreak. The study was supported in part by the National Human Genome Research Institute.
October 27, 2016: Mouse Tests Aim to Show How Genes and Environment Join Forces to Cause Disease
From Johns Hopkins University: When researchers try to uncover the cause of disease, they commonly start with two questions: Did a quirk in the patient's genes open the door to illness? Did exposure to environmental factors play havoc with the patient's health? Very often, both troublemakers are at least partly to blame. To provide the most effective treatment, doctors need to know as much as possible about how these partners in sickness and poor health work together. Scientists from Johns Hopkins University and Texas A&M University have launched an ambitious new effort to gather such knowledge, with support from a $5.3 million National Institutes of Health grant. The team's goal is to learn at a fundamental level how genes and environmental factors interact to cause human disease. Two NIH units-the National Human Genome Research Institute and the National Institute of Environmental Health Sciences-will provide the funding over a five-year period.
October 17, 2016: NIH Scientists Uncover Genetic Explanation for Frustrating Syndrome
From the National Institute of Allergy and Infections Diseases: Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems. Some people who experience these diverse symptoms have elevated levels of tryptase-a protein in the blood often associated with allergic reactions. Multiple copies of the alpha tryptase gene drive these tryptase elevations and may contribute to the symptoms, according to a new study led by investigators at the National Instiute of Allergy and Infectious Diseases (NIAID). The National Human Genome Research Institute also provided funding for this study.
October 13, 2016: 23andMe, NIH Work to Reduce Health Research Disparities Among African Americans
From 23andMe: 23andMe, Inc., the leading personal genetics company, today announced a new grant from the National Institutes of Health (NIH), for the creation of a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations. The $1.7 million grant, issued from the National Human Genome Research Institute, will go toward leveraging 23andMe's data on more than one million customers who have consented to participate in research, creating an African American sequencing panel to be used as a reference dataset for health research. The de-identified genetic data will be made available to other health researchers at institutions around the world.
October 6, 2016: Reactome announces annotation and release of 10,000th human protein
From the Ontario Institute for Cancer Research (OICR):. The European Bioinformatics Institute (EMBL-EBI), the New York University School of Medicine and the Ontario Institute for Cancer Research (OICR) today announced a major milestone in the Reactome project: the annotation and release of its 10,000th human protein, making it the most comprehensive open access pathway knowledgebase available to the scientific community. The Reactome project is supported by NHGRI under the Computational Genomics and Data Science Program.
September 22, 2016: Inflammatory Autoimmune Disease Research at Georgia Tech awarded $2.3 Million NIH Grant
From Georgia Tech: The lab of Greg Gibson at the Georgia Institute of Technology has been awarded a grant of $2.3 million to study the subtle genetic underpinnings of autoimmune-related diseases by taking a computational approach. The National Institutes of Health made the award as part of an $11.1 million total investment in research funds slated for five institutions, including Georgia Tech. The researchers' work could increase understanding of the causes of diabetes, Crohn's disease, rheumatoid arthritis, forms of heart disease, and more afflictions where inflammation is at issue, and where there may be a connection to autoimmunity. Funding comes from the National Human Genome Research Institute's Non-Coding Variants Program and the National Cancer Institute.
September 22, 2016: Drug development: Through the barrier
From Nature: A metabolic physician at the University of Cambridge, UK, obtains a cutting-edge treatment from the United States - glucocerebrosidase enzyme purified from a human placenta - and administered it to his patient by intravenous infusion. This was the first UK use of enzyme-replacement therapy to treat Gaucher's disease, and the result was dramatic. Within months, the patient was no longer dependent on either blood transfusions or the wheelchair. "He never looked back, and he's still alive today," Cox says. Without it, "he would have been dead from bleeding or some complication a long time ago. The advent of enzyme-replacement therapy in the early 1990s revolutionized the treatment of Gaucher's disease. It also led to a new era of drug therapies for other lysosomal storage disorders (LSDs), a group of around 50 genetic conditions that compromise the body's ability to break down specific molecules, which then build up to create severe health problems. Dr. Ellen Sidransky, senior investigator with NHGRI's Medical Genomics Branch and an expert in Gaucher disease, is consulted and comments on the research in this article from Nature.
September 22, 2016: Coriell Institute Wins NIH Award
From Coriell Institute: Coriell Institute for Medical Research has won a $4.25M grant from the National Human Genome Research Institute. The five-year award supports the NHGRI Sample Repository for Human Genetic Research, a powerful collection of high-quality cell lines and DNA housed at Coriell and distributed to the global research community. The NHGRI Sample Repository includes the samples used by the International HapMap and 1000 Genomes projects, which have made significant contributions to the scientific and medical fields. Samples are accessible through the Coriell Institute and have genotype and sequence data. Donors gave broad consent for use of the samples, therefore no identifying or phenotypic information is available.
September 15, 2016: Distinct neurological syndromes can be the result of variations in gene ATAD3A
From Baylor College of Medicine: A team of scientists from a number of institutions around the world, including Baylor College of Medicine, discovered that rare neurological syndromes for which there was no cause can be the result of variations in the gene ATAD3A. The study, which appears in the September 15 issue of American Journal of Human Genetics, sheds light on the causes of these diseases and opens the possibility for developing better diagnostic tools and potential treatments in the future. The research was funded in part by the National Human Genome Research Institute.
September 14, 2016: Genes essential to life are enriched for human disease genes, large-scale mouse phenotyping study shows
From The Jackson Laboratory: Roughly a third of all genes in the mammalian genome are essential for life. A new article in Nature, from an international, multi-institutional research team including The Jackson Laboratory (JAX), describes the large-scale discovery of those genes and how it will impact understanding of mammalian development and human disease. The research was funded in part by the National Human Genome Research Institute.
September 12, 2016: New Studies Double Number of Known Sites in Genome Linked to High Blood Pressure
From Johns Hopkins Medicine: Several large international groups of researchers report data that more than doubles the number of sites in the human genome tied to blood pressure regulation. In one of the studies, Johns Hopkins University scientists in collaboration with many other groups, found unexpected hints that biochemical signals controlling blood pressure may spring from within cells that line blood vessels themselves. Another surprising finding from the study was that many of the new sites identified were near genes that are active in cells that line the inside of blood vessels, suggesting those cells are somehow involved directly in blood pressure control. The study, wich appears in the Sept. 12 journal Nature Genetics, was funded in part by the by the National Human Genome Research Institute.
August 17, 2016: Largest collection of human exome sequence data yields unprecedented tool for diagnosing rare disease
From Broad Institute: Based on the largest resource of its kind, members of the Exome Aggregation Consortium (ExAC) led by scientists at the Broad Institute of MIT and Harvard report scientific findings from data on the exome sequences (protein-coding portions of the genome) from 60,706 people from diverse ethnic backgrounds. Containing over 10 million DNA variants - many very rare and most identified for the first time - the ExAC dataset is a freely available, high-resolution catalog of human genetic variation that has already made a major impact on clinical research and diagnosis of rare genetic diseases. Featured in the August 18 issue of Nature, analysis of the data reveals properties of genetic variation undetectable in smaller data sets.? The study was funded in part by the National Human Genome Research Institute.
August 4, 2016: Researchers flag hundreds of new genes that could contribute to autism
From Princeton University: Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers. In the first effort of its kind, the research team developed a machine-learning program that scoured the whole human genome to predict which genes may contribute to autism spectrum disorder (ASD). The results of the program's analyses - a rogue's gallery of 2,500 candidate genes - vastly expand on the 65 autism-risk genes currently known. Researchers have recently estimated that 400 to 1,000 genes underpin the complex neurodevelopmental disorder. The researchers have made their results available in the August 1st online edition of the journal Nature Neuroscience. The study was funded in part by the National Human Genome Research Institute.
August 1, 2016: Tapping crowd-sourced data unearths a trove of depression genes
From the National Institute of Mental Health: Scientists have discovered 15 genome sites - the first ever - linked to depression in people of European ancestry. Many of these regions of depression-linked genetic variation turn out to be involved in regulating gene expression and the birth of new neurons in the developing brain. However, the researchers did not have to sequence anyone's genes! Instead, they analyzed data already shared by people who had purchased their own genetic profiles via an online service and elected to participate in its research option. This made it possible to leverage the statistical power of a huge sample size to detect weak genetic signals associated with a diagnosis likely traceable to multiple underlying illness processes. This novel use of crowd-sourced data was confirmed with results from traditional genetics approaches in the study, funded in part by the National Human Genome Research Institute.
July 22, 2016:Vaccine Strategy Induces Antibodies that Can Target Multiple Influenza Viruses
From the National Institute of Allergy and Infectious Diseases: Scientists have identified three types of vaccine-induced antibodies that can neutralize diverse strains of influenza virus that infect humans. The discovery will help guide development of a universal influenza vaccine, according to investigators at the National Institute of Allergy and Infectious Diseases (NIAID), and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health (NIH), and collaborators who conducted the research. The findings appear in the July 21st online edition of Cell.
July 14, 2016: How Will Genomics Enter Day-to-day Medicine?
From the Massachusetts Institute of Technology: Scientists are learning that the state of the microbiome can have an impact on human health, with the risk for everything from autoimmune disease to certain cancers being linked to the diversity and wellbeing of the trillions of microbes living in and on the body. In work published in this week's Nature, Eric Alm and Ilana Brito from MIT and the Broad Institute of MIT and Harvard and their colleagues took a deep look at the microbiomes in developing world populations to study how culture can influence their makeup. The research was funded in part by NHGRI.
July 5, 2016: How Will Genomics Enter Day-to-day Medicine?
From Children's Hospital of Philadelphia: A quiet transformation has been brewing in medicine, as large-scale DNA results become increasingly available to patients and healthcare providers. Amid a cascade of data, physicians, counselors and families are sorting out how to better understand and use this information in making healthcare decisions. National experts who have gathered in Clinical Genetics Think Tank meetings at two large pediatric hospitals recently issued their first recommendations for integrating genomics into clinical practice. The recommendations appeared online May 12, 2016, in Genetics in Medicine. The research was supported, in part, by the National Human Genome Research Institute.
June 23, 2016: Human brain houses diverse populations of neurons, new research shows
From University of California at San Diego: A team of researchers has developed the first scalable method to identify different subtypes of neurons in the human brain. The research lays the groundwork for "mapping" the gene activity in the human brain and could help provide a better understanding of brain functions and disorders, including Alzheimer's, Parkinson's, schizophrenia and depression. By isolating and analyzing the nuclei of individual human brain cells, researchers identified 16 neuronal subtypes in the cerebral cortex-the brain's outer layer of neural tissue responsible for cognitive functions including memory, attention and decision making. The team, led by researchers at the University of California San Diego, The Scripps Research Institute (TSRI) and Illumina, published their findings in the June 24 online issue of the journal Science. The study used single cell analysis technology originally developed with support from a Common Fund HMP Technology Development grant administered by NHGRI.
June 16, 2016: UMN study to establish legal framework for genomic medicine
From University of Minnesota: The National Institutes of Health (NIH) has awarded the first-ever grant dedicated to laying the policy groundwork needed to translate genomic medicine into clinical application. The project - LawSeqSM - will convene legal, ethics and scientific experts from across the country to analyze what the state of genomic law is and create much-needed guidance on what it should be. NIH has declared the adoption of genomic medicine by clinicians to be a top priority to improve both individual and public health. The federal Precision Medicine Initiative (PMI), announced by President Obama and currently being launched, aims to use genomics and other analyses to accelerate development of more powerful and tailored treatments for cancer and other diseases. Yet U.S. federal and state genomics law is unclear and poorly understood, presenting a major obstacle to progress. NHGRI funds LawSeqSM.
June 14, 2016: Supercomputer changing genetic medicine in Africa
From University of Illinois at Urbana-Champaign: The National Center for Supercomputing Applications at the University of Illinois at Urbana-Champaign is helping change the way genetic medicine is researched and practiced in Africa. Members of the Blue Waters team recently made it possible to discover genomic variants in over 300 deeply sequenced human samples to help construct a genotyping chip specific for African populations. The research is part of the H3Africa project, funded in part by NHGRI.
June 13, 2016: Probing proteins' 3-D structures suggests existing drugs may work for many cancers
From Washington University School of Medicine in St. Louis: Examining databases of proteins' 3-D shapes, scientists at Washington University School of Medicine in St. Louis have identified more than 850 DNA mutations that appear to be linked to cancer. The information may expand the number of cancer patients who can benefit from existing drugs. The study, published June 13 in Nature Genetics, detailed a list of the mutations and associated drugs that may work against them. The researchers included drugs already approved for use in patients by the Food and Drug Administration (FDA) as well as drugs being evaluated in clinical trials and in preclinical studies. The research was funded in part by NHGRI.
June 2, 2016: A massive approach to finding what's "real" in genome-wide association data
From Broad Institute: What could we learn if we probed the subtle effects of thousands of DNA variations on gene expression, all at once? Two recent NHGRI-funded studies, both of which were published in the journal Cell, hint at how an assay called the massively parallel reporter assay (MPRA) could help us get there. Genome-wide association studies (GWAS) have been a boon for geneticists by revealing thousands of genetic variants associated with human disease. At the same time, GWAS are the bane of geneticists because they reveal thousands of genetic variants associated with human disease.
May 26, 2016: Metagenomics Pathogen Detection Tool Could Change How Infectious Diseases Are Diagnosed
From the University of Utah: Scientists at the University of Utah and their colleagues have developed a new software called Taxonomer that improves the accuracy and speed of detecting pathogens, which may help in diagnosing infectious diseases. In a report in the journal Genome Biology, the researchers showed Taxonomer could analyze the sequences of all nucleic acids in a clinical specimen (DNA and RNA) and detect disease-causing pathogens, as well as profile a patient's gene activity, in minutes.
May 20, 2016: OU Center Examines How Genomic Information Impacts Medical Care of Native American Communities
From the University of Oklahoma: A University of Oklahoma Center on American Indian and Alaska Native Genomic Research will examine the impact of genomic information on American Indian and Alaska Native communities and health care systems. The funding for this study - provided by NHGRI's Centers of Excellence in Ethical, Legal and Social Implications Research (CEER) program - will allow the OU research team will collaborate with the Cheyenne River Sioux tribe, the Chickasaw Nation and Southcentral Foundation in Anchorage, Alaska, to study knowledge and attitudes about genomics.
May 19, 2016: New center to study genomic privacy concerns
From Vanderbilt: Researchers at Vanderbilt University School of Medicine have received a four-year, $4-million grant from the National Institutes of Health (NIH) to establish a new center for the study of privacy concerns associated with the use of genomic information, the NIH announced this week. The Vanderbilt Center for Genetic Privacy and Identity in Community Settings will examine the likelihood that lapses in protecting genomic information allow people to be identified, how people perceive such risks and how effective legal and policy efforts are in reducing them. NHGRI funds new CEER through the Ethical, Legal and Social Implications Research Program.
Last Updated: January 4, 2018