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.
September 14, 2016: Genes essential to life are enriched for human disease genes, large-scale mouse phenotyping study shows New
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.
August 17, 2016: Largest collection of human exome sequence data yields unprecedented tool for diagnosing rare disease New
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.
- May 18, 2016: NIH Names Johns Hopkins Berman Institute a Center of Excellence For Bioethics Research on Genomics and Infectious Disease
From Johns Hopkins: The National Human Genome Research Institute of the National Institutes of Health (NIH) has awarded the Johns Hopkins Berman Institute of Bioethics a "Center of Excellence" grant to study the ethical, legal and social implications (ELSI) of applying genomics to research on, and the prevention and treatment of, infectious disease. This builds on three years of work of an exploratory Center of Excellence in ELSI Research(CEER) at the Berman Institute, the first such project to focus attention on genomic ELSI issues in the context of infectious disease.
- May 10, 2016: TSRI Team Streamlines Biomedical Research by Making Genetic Data Easier to Search
From Scripps Research Institute: A team of scientists at The Scripps Research Institute (TSRI) is expanding web services to make biomedical research more efficient. With their free, public projects, MyGene.info and MyVariant.info, researchers around the world have a faster way to spot new connections between genes and disease. Wu and TSRI Associate Professor Andrew Su co-led a new study published in the journal Genome Biology reporting on progress in setting up these services and the positive response from users so far. The research was funded in part by NHGRI through NIH's Big Data 2 Knowledge (BD2K) Initiative.
- May 9, 2016: International Collaboration Leads to Clues About Rare Cancer
From the University of Michigan: Researchers from across the globe have joined together to improve understanding about one of the most rare - and lethal - types of cancer. Teams from 39 institutions in Europe, North America, South America and Australia collected and analyzed 91 samples of adrenocortical carcinoma. They performed a comprehensive genomic analysis as part of The Cancer Genome Atlas (TCGA) Research Network. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.
- May 6, 2016: Deciphering chromatin: Many marks, millions of histones at a time
From the Broad Institute: A new high-resolution technique for reading combinations of chemical flags in the epigenome could help uncover new rules underlying cell fate and provide important clues for understanding diseases like cancer. The research was partially supported by National Human Genome Research Institute.
- April 28, 2016: UC San Diego bioengineers create first online search engine for functional genomics data
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
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
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
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]
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
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.