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
June 13, 2018: Release: New trans-NIH consortium aims to advance pediatric research on a global level New
From Eunice Kennedy Shriver National Institute of Child Health and Human Development: The National Institutes of Health has formed the Trans-NIH Pediatric Research Consortium to coordinate pediatric research programs across its institutes and centers. Nearly all of the 27 NIH institutes and centers fund some aspects of child health research. In fiscal year 2017, this support totaled more than $4 billion. The new consortium aims to harmonize these activities, explore gaps and opportunities in the overall pediatric research portfolio, and set priorities.
June 11, 2018: Team Develops Framework To Identify Genetic Missense Mutations Linked to Autism Spectrum Disorder New
From Carnegie Mellon University: Missense mutations occur when there is a change in one gene's DNA base pair, and the change results in the substitution of one amino acid for another in the gene's protein. Mutations that disrupt the function of proteins are widely recognized as a risk source for development disorders such as intellectual disability, congenital heart defects and autism spectrum disorder (ASD). A new study published in Nature Genetics established a computationally integrated approach to investigate the functional impact of missense mutations. A team, which includes Carnegie Mellon University's Kathyrn Roeder, tested the approach by analyzing genetic structures of individuals with ASD who also had mutations as well as their siblings who did not have the mutations. They found that the framework successfully identified and prioritized missense mutations that contribute to disease or disorder risk. This study was funded in part by the National Human Genome Research Insititute.
May 17, 2018: Transfer RNA research addresses a blind spot in understanding of human genes New
From UC Santa Cruz: The human genome includes more than 500 genes for transfer RNA (tRNA) molecules, which are essential for making proteins in all living organisms. Scientists have long understood the fundamental role of tRNAs in translating genetic code into proteins, but in recent years they have discovered new and unexpected functions for these molecules, including specialized regulatory roles in the cell sometimes carried out by small fragments of tRNAs. Todd Lowe, professor of biomolecular engineering at UC Santa Cruz, and his lab have developed a special RNA sequencing technique (ARM-seq) needed to detect and sequence tRNA fragments in the cells of humans and other organisms. NHGRI has just awarded a five-year, $2.7 million grant to support Lowe's continued international leadership in the study of tRNA gene function.
May 16, 2018: NIH, Northwestern scientists develop potential new approach to stop cancer metastasis New
From the National Institutes of Health: Researchers have identified a compound that blocks the spread of pancreatic and other cancers in various animal models. When cancer spreads from one part of the body to another in a process called metastasis, it can eventually grow beyond the reach of effective therapies. Now, there is a new plan of attack against this deadly process, thanks to scientists at the National Institutes of Health, Northwestern University and their collaborative research partners. The team collaborated to identify a compound, which they named metarrestin, that stopped tumor metastasis in multiple animal models. Mice treated with metarrestin also had fewer tumors and lived longer than mice that did not receive treatment. The results were published in May 16 issue of Science Translational Medicine. Research was partly funded by the National Human Genome Research Institute.
April 16, 2018: 'Mono' Virus Linked to Seven Serious Diseases
From Cincinnati Children's: A far-reaching study conducted by scientists at Cincinnati Children's reports that the Epstein-Barr virus (EBV)-best known for causing mononucleosis-also increases the risks for some people of developing seven other major diseases. Those diseases are: systemic lupus erythematosus (SLE), multiple sclerosis (MS), rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), inflammatory bowel disease (IBD), celiac disease, and type 1 diabetes. Combined, these seven diseases affect nearly 8 million people in the United States. Cincinnati Children's is funded by NHGRI and the Electronic Medical Records and Genomics (eMERGE) Network, a National Institutes of Health (NIH)-organized and funded consortium of U.S. medical research institutions.
April 2, 2018: Scientists discover new method for measuring cellular age
From Van Andel Institute: A team led by scientists at Van Andel Research Institute and Cedars-Sinai have developed a straightforward, computational way to measure cellular age, a feat that may lead to better, simpler screening and monitoring methods for cancer and other diseases. The findings, published in Nature Genetics, reveal a progressive, measurable loss of specific chemical tags that regulate gene activity and are detectable at the earliest stages of development. These changes continue throughout a person's life, correlating with cellular rather than chronological age and foreshadowing alterations found in cancer cells. This study was partly funded by the National Human Genome Research Institute.
March 12, 2018: CRISPR helps find new genetic suspects behind ALS/FTD
From the National Institutes of Health: NIH-funded researchers at Stanford University used the gene editing tool CRISPR-Cas9 to rapidly identify genes in the human genome that might modify the severity of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) caused by mutations in a gene called C9orf72. The results of the search, published in Nature Genetics, uncovered a new set of genes that may hasten neuron death during the disease. This study was supported in part by the NHGRI Training Grant.
March 1, 2018: African Academy of Sciences awards grants to better understand the diseases that affect Africa most
From the African Academy of Sciences: The African Academy of Sciences is awarding $11 million to four leading African researchers for cutting edge research to accelerate the use of genomics to better understand how the environment and human genes influence the susceptibility of Africans to certain diseases, and their response to treatment. The grants are being awarded to researchers from Ethiopia, The Gambia, Uganda and South Africa to lead four-year programmes to promote south-south collaboration through the Human Hereditary and Health in Africa (H3Africa). NHGRI is one of the founding and funding NIH agencies for H3Africa.
February 20, 2018: Building Capacity in Africa for Genomics and Environmental Health Research
From The National Institute of Environmental and Health Sciences: Africa suffers a disproportionate burden of communicable diseases, such as HIV/AIDS, tuberculosis, and malaria, as well as an emerging prevalence of non-communicable diseases, such as cancer, diabetes, and cardiovascular disease. Despite these issues, the high genetic diversity of African populations offers researchers a unique opportunity to study and discover important interactions between genes and the environment (G x E) as they relate to varied locations, lifestyles, and exposures. NIH is part of a global effort to apply genomic science and technologies to understand health and disease in populations, including people who are more at risk for developing specific diseases due to genetic and/or environmental factors. Originally supported by the NIH Common Fund and the Wellcome Trust in the United Kingdom, the Human Heredity and Health in Africa (H3Africa) program is a consortium designed to provide new opportunities for African scientists to lead research, and aims to understand how G x E interactions influence health and disease by using genomics and other innovative approaches. NHGRI is one of the founding and funding NIH agencies for H3Africa.
February 12, 2018: New GUINNESS WORLD RECORDStm Title Set for Fastest Genetic Diagnosis
From Rady Children's Hospital, San Diego: Scientists at the Rady Children's Institute for Genomic Medicine (RCIGM) have compressed the time needed to decode rare genetic disorders in newborns through DNA sequencing to less than a day. Through close collaboration with leading technology and data-science developers - Illumina, Alexion, Clinithink, Edico Genome, Fabric Genomics and Diploid-the RCIGM team has engineered a seamless process-enhanced by in-house expertise-to deliver analysis and interpretation of life-threatening genetic variations in just 19.5 hours. NHGRI helped support the study through it's NSIGHT program.
February 6, 2018: Sequencing Human Genome with Pocket-Sized "Nanopore" Device
From the NIH Director's Blog: That first reference human genome was sequenced using automated machines that were the size of small phone booths. Since then, breathtaking progress has been made in developing innovative technologies that have made DNA sequencing far easier, faster, and more affordable. Now, a report in Nature Biotechnology highlights the latest advance: the sequencing and assembly of a human genome using a pocket-sized device. It was generated using several "nanopore" devices that can be purchased online with a "starter kit" for just $1,000. In fact, this new genome sequence-completed in a matter of weeks-includes some notoriously hard-to-sequence stretches of DNA, filling several key gaps in our original reference genome. NHGRI helped support the study.
January 30, 2018: Uniquely Human DNA Sequences Control Brain Development
From the Gladstone Institutes: In a new study, released on bioRxiv researchers from the Gladstone Institutes and UC San Francisco (UCSF) discovered that of the 700 human accelerated regions (HARs) - parts of the genome that remained stable in mammals for millennia, but then quickly changed as humans evolved from their primate ancestors - nearly half of the HARs served as enhancers for genes that are important in brain development. This research was partly funded by the National Human Genome Research Institute.
January 23, 2018: NIH to launch genome editing research program
From the National Institutes of Health: The National Institutes of Health launched an effort aimed at removing barriers that slow the adoption of genome editing for treating patients. This program, Somatic Cell Genome Editing, plans to award researchers approximately $190 million over six years beginning this year, pending availability of funds. These researchers will collaborate to improve the delivery mechanisms for targeting gene editing tools in patients, develop new and improved genome editors, develop assays for testing the safety and efficacy of the genome editing tools in animal and human cells, and assemble a genome editing toolkit containing the resulting knowledge, methods, and tools to be shared with the scientific community. The program is funded by NIH's Common Fund. The National Human Genome Research Institute will administer the Somatic Cell Genome Editing Dissemination and Coordinating Center.
January 12, 2018: Study Examines Genetic Link Between Epilepsy and Mood Disorders
From Columbia University Mailman School of Public Health: Mood disorders, including depression, are the most common comorbid conditions in individuals with epilepsy, but the cause remains unclear, according to a latest study by researchers at Columbia University's Mailman School of Public Health and Rutgers University. The findings suggest that there may be a shared genetic susceptibility to these conditions, expressed only in people with focal epilepsy, in which seizures start in one part of the brain. Results of the study are published in the journal Epilepsia. Funding for this study was provided in part by the National Human Genome Research Institute.
January 3, 2018: Unique study provides the first genetic map of the people of Ireland
From Baylor College of Medicine: Researchers, organized and led by Baylor College of Medicine (BCM) and Emory University, sequenced and analyzed the genomes of rhesus macaques and snooty mangabeys to investigate the mechanisms that drive disease progression, and thus to develop new insights into the behavior of the HIV virus in humans. Together the BCM and Emory researchers were able to identify several key differences in genes related to the immune system in sooty mangabeys that have significant divergence from the equivalent genes of macaques or humans. The results were published online in Nature on January 3. Funding for this research was provided in part by the National Human Genome Research Institute.
December 8, 2017: Unique study provides the first genetic map of the people of Ireland
From the Science Foundation of Ireland: Researchers led by the Royal College of Surgeons in Ireland and the Genealogical Society of Ireland have published "The Irish DNA Atlas; Revealing Fine-Scale Population Structure and History within Ireland" in the journal Scientific Reports. The landmark study provides the first fine-scale genetic map of the island of Ireland, revealing patterns of genetic similarity, so far in ten distinct clusters, roughly aligned with the ancient Provinces as well as with major historical events including the invasions of the Norse Vikings and the Ulster Plantations. NHGRI's Larry Brody, Ph.D., director of the Division of Genomics and Society, contributed to the research.
December 4, 2017: NIH Reopens Comment Period on Proposal to Update Data Management of Genomic Summary Results
From the National Institutes of Health: Today, the NIH issued a notice in its Guide to Grants and Contracts reopening the public comment period on a proposed update to the data management of genomic summary results under the NIH Genomic Data Sharing (GDS) Policy. The proposed update to the GDS Policy's data management practices would help support NIH's goals to promote scientific advances and protect research participants' privacy interests by allowing genomic summary results from most studies to be provided via a public, rapid-access model. Interested stakeholders can view the proposed update and provide comments by visiting here. Comments must be received by December 12, 2017 to receive consideration.
November 30, 2017: Law Students Explore Genomics at NIH
From University of Maryland Baltimore: Two days a week, four University of Maryland Francis King Carey School of Law students braved snarled rush hour traffic on the Capital Beltway to attend a unique externship opportunity at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health in Bethesda, Md. Under the expert guidance of Karen Rothenberg, JD, MPA, Marjorie Cook Professor of Law, the students spent 13 intense weeks exploring the ethical, legal, social, and policy issues raised by genomics research.
November 6, 2017: NIH awards to test ways to store, access, share, and compute biomedical data in the cloud
From the National Institutes of Health: Twelve awards totaling $9 million in Fiscal Year 2017 will launch a National Institutes of Health Data Commons Pilot Phase to explore the feasibility and best practices for making digital objects available through collaborative platforms on public clouds. The goal of the NIH Data Commons Pilot Phase is to accelerate biomedical discoveries by making biomedical research data Findable, Accessible, Interoperable, and Reusable (FAIR) for more researchers. Three NIH-funded data sets, including data sets from Genotype-Tissue Expression (GTEx) will serve as test cases for the NIH Data Commons Pilot Phase. NHGRI is one of the lead NIH entities involved in management of the NIH Data Commons Pilot Phase.
October 18, 2017: GA4GH Strikes Formal Collaborations with 15 International Genomic Data Initiatives
From The Global Alliance for Genomics and Health: The Global Alliance for Genomics and Health (GA4GH) has struck formal collaborations with 15 international genomic data initiatives as 2017 Driver Projects, including Genomics England, Australian Genomics and the U.S. All of Us Research Program. The announcement, made at the GA4GH 5th Plenary Meeting, comes as part of the launch of GA4GH Connect: A 5-year Strategic Plan. GA4GH Connect aims to drive uptake of standards and frameworks for genomic data sharing within the research and healthcare communities in order to enable responsible sharing of clinical-grade genomic data by 2022.
October 5, 2017: Neville Sanjana Granted NIH "New Innovator" Award for Genome Editing to Probe the Noncoding Genome
From New York University: The National Institutes of Health (NIH) has selected the laboratory of Neville Sanjana, an assistant professor in NYU's Department of Biology and an assistant professor of neuroscience and physiology at NYU School of Medicine, for its "New Innovator" Award. The grant will enable Sanjana, Core Faculty Member at the New York Genome Center, and his team to interrogate the noncoding regions of the genome, which is 98 percent of the human genome. Utilizing advanced genome engineering and high-throughput sequencing, the Sanjana Lab aims to identify the sequences and proteins that govern gene expression. This research is supported by the National Human Genome Research Institute.
October 3, 2017: University of Utah Health Awarded $3 Million to Accelerate the Integration of Precision Medicine into Patient Care
From the University of Utah: On the computer screen in front of him was the smoking gun responsible for the young child's death. After analyzing the child's DNA, Martin Tristani-Firouzi, M.D., a pediatric cardiologist at University of Utah Health who also practices at Primary Children's Hospital, knew what caused his patient's heart to seize. A large chunk of DNA was missing, disrupting a gene that controls the heart's rhythmic beating. Had he known earlier, he may have been able to tailor the child's medical care to prevent the worst from happening. With $3 million from the National Human Genome Research Institute (NHGRI), a team of researchers at U of U Health and Primary Children's Hospital in Salt Lake City is taking personal genomics to the next step. They are developing a web-based app to assist doctors with providing clinical care based on information found within their patient's DNA.
September 28, 2017: A research toolkit of standard measures to be expanded to further support the biomedical community
From RTI International: As part of a new five-year award from the National Human Genome Research Institute, RTI International will expand the PhenX Toolkit, a web-based catalog of standard measures for use in collaborative research. The Toolkit provides well established measures and the tools to use the measures in a variety of studies of human health and disease. With co-funding from the National Institute on Drug Abuse and the Office of Behavioral and Social Sciences Research, the grant supports enhancing the Toolkit's accessibility and navigation, developing new features and expanding content to meet the evolving needs of the research community.
September 15, 2017: Meet Genetics & Public Policy Fellow Nikki Meadows
From the American Society of Human Genetics: Danielle (Nikki) Meadows, PhD, ASHG/NHGRI Genetics & Public Policy Fellow for 2017-18 began her first rotation at the National Human Genome Research Institute in August. ASHG sits down with her for an informal talk about her background and interest in science policy.
September 6, 2017: Jennifer Krupp, M.D. is First Recipient of the New NIH-ACMG Fellowship in Genomic Medicine Program Management
From the American College of Medical Genomics: The National Institutes of Health (NIH) in partnership with the American College of Medical Genetics and Genomics (ACMG) has selected Jennifer Lynn Krupp, M.D. as the first recipient of the new NIH-ACMG Fellowship in Genomic Medicine Program Management. The goal of this fellowship is to increase the pool of physicians trained in managing research and implementation programs in genomic medicine (i.e., the use of genomic information as part of a patient's clinical care.) Dr. Krupp will begin one of her five three-month rotations at NHGRI.
August 18, 2017: IRDiRC Goals 2017-2027: New rare disease research goals for the next decade
From the International Rare Diseases Research Consortium (IRDiRC): IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years have seen considerable progress on these goals: the goal to deliver 200 new therapies was achieved in early 2017 - three years earlier than expected - and the goal for diagnostics is within reach. These accomplishments were celebrated at the 3rd IRDiRC Conference in Paris in February 2017. In light of this, IRDiRC initiated a year-long collaborative process to devise a new set of global rare disease goals for the upcoming decade. NHGRI program director Lu Wang, Ph.D., is a member of the IRDiRC, which has strict guidelines for achieving its goals for collaboration, data sharing and and the dessemination of research project information in rare diseases.
July 17, 2017: 2017 Coleman Research Awardees
From the National Institute of Minority Health and Health Disparities: NIMHD has announced the 2017 Coleman Research Award winners, among them NHGRI IRTA Postdoctoral Fellow Candace Middlebrooks, Ph.D. William G. Coleman Jr., a distinguished researcher at NIH for 40 years, died of cancer in 2014 at age 72. He became the first permanent African-American scientific director in the history of the NIH Intramural Research Program (IRP) when he was appointed to direct the National Institute on Minority Health and Health Disparities' (NIMHD's) intramural research program in January 2011. The William G. Coleman, Jr., Ph.D., Minority Health and Health Disparities Research Innovation Award is a competitive award program designed to support the development of innovative research ideas and concepts contributed by post-doctoral fellows, staff scientists and staff clinicians within the NIMHD Intramural Research Program, who have the potential for high impact in any area of minority health and health disparities research.
July 17, 2017: Recession Proof
From Harvard Medical School : A new genomic analysis reveals how populations in South Asia - including people living in India, Pakistan, Bangladesh, Sri Lanka and Nepal - are particularly vulnerable to rare genetic diseases. Several diseases specific to South Asian populations had been identified in the past, but the genetic causes of the vast majority remained largely mysterious. The new multi-institutional study reveals that so-called founder events - in which a small number of ancestors give rise to many descendants - significantly contributed to high rates of population-specific, recessive diseases in the region. The findings were published July 17 in Nature Genetics. Funding for this research was provided in part by the National Human Genome Research Institute.
July 13, 2017: ASHG Honors John Mulvihill with Mentorship Award
From the American Society of Human Genetics : The American Society of Human Genetics (ASHG) has named John J. Mulvihill, MD, Children's Hospital Foundation-Kimberly V. Talley Chair in Genetics and Professor of Pediatrics in the College of Medicine at the University of Oklahoma Health Sciences Center (OUHSC), and Senior Consultant to the Division of Genomic Medicine in the National Human Genome Research Institute, part of the National Institutes of Health (NIH); as the recipient of its 2017 Mentorship Award.
July 12, 2017: Scientists replay movie encoded in DNA
From the National Institute of Mental Health: For the first time, a primitive movie has been encoded in - and then played back from - DNA in living cells. Scientists funded by the National Institutes of Health say it is a major step toward a "molecular recorder" that may someday make it possible to get read-outs, for example, of the changing internal states of neurons as they develop. The research was reported July 12, in the journal Nature and was funded by NIH's National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, and the National Human Genome Research Institute.
June 26, 2017: Sequencing Healthy Patients Reveals That Many Carry Rare Genetic Disease Risks
From Brigham and Women's Hospital and Harvard Medical School: Whole genome sequencing involves the analysis of all three billion pairs of letters in an individual's DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease. However, the use of genome sequencing in healthy individuals is controversial because no one fully understands how many patients carry variants that put them at risk for rare genetic conditions and how they, and their doctors, will respond to learning about these risks. In a new paper published June 26 in the Annals of Internal Medicine by investigators at Brigham and Women's Hospital and Harvard Medical School, along with collaborators at Baylor College of Medicine, report the results of the four-year, NIH-funded MedSeq Project, the first-ever randomized trial conducted to examine the impact of whole genome sequencing in healthy primary care patients. The MedSeq Project is one of the sites in the Clinical Sequencing Exploratory Research Consortium and was funded by the National Human Genome Research Institute, part of the National Institutes of Health.
June 26, 2017: The sexual dimorphism dilemma
From the European Bioinformatics Institute (EMBL-EBI): Researchers at the European Bioinformatics Institute (EMBL-EBI) and their collaborators in the International Mouse Phenotyping Consortium (IMPC) have fully characterised thousands of mouse genes for the first time. Published in Nature Genetics, the results offer hundreds of new disease models and reveal previously unknown gene functions. The 3,328 genes described in this publication by the IMPC represent approximately 15% of the mouse genome. NHGRI helps administer the Knockout Mouse Phenotyping project through the NIH Common Fund, which helped fund this study.
June 26, 2017: Mouse genes could help decipher human disease
From the European Bioinformatics Institute (EMBL-EBI): The sex of animals has an effect on the results of biomedical research and should be considered in design of scientific studies, according to researchers from the Wellcome Trust Sanger Institute, the European Bioinformatics Institute (EMBL-EBI) and the International Mouse Phenotyping Consortium. This statement, published in Nature Communications, is based on the discovery that the differences between male and female mice have an effect that could significantly alter the interpretation of studies using animal models with only one gender (sex). NHGRI helps administer the Knockout Mouse Phenotyping project through the NIH Common Fund, which helped fund this study.
June 1, 2017: Genomics: At the Heart of 'All of Us'
From the University of Connecticut: On June 5, a three-day conference exploring the issues that spring from the ethical, legal and social implications of genomic research kicks off at UConn Health and the Jackson Laboratory for Genomic Medicine located in Farmington, CT. The Genomics and Society: Expanding the ELSI Universe conference is funded by NHGRI through a grant to Columbia University Medical Center (CUMC). The prestigious keynote speaker of the international event is Stephanie Devaney, Ph.D., deputy director of the All of Us Research Program at the National Institutes of Health (NIH). In this Q & A article she discusses how the new frontier of precision medicine, fueled by genomics, is at the heart of all our future health and healthcare.
May 16, 2017: Using genomics to fight deadly parasitic disease
From the University of New Mexico: An international team of researchers, led by University of New Mexico Associate Professor Coenraad Adema, is now one step closer to eliminating a deadly parasitic disease responsible for killing hundreds of thousands of people around the world every year. A research article published in Nature Communications, gives an in-depth look of the sequenced genome of Biomphalaria glabrata, a tropical Ram's Horn snail. Understanding the snail's genetic makeup is a critical component in being able to understand these interactions. The National Human Genome Research Institute of NIH supported for the sequencing effort.
May 1, 2017: CRISPR Epigenome Editing Hits the Big Time
From the NIH Common Fund: Common Fund Roadmap Epigenomics Program grantee Dr. Charles Gersbach, Associate Professor of Biomedical Engineering at Duke University, and collaborators, have developed a CRISPR-based epigenomic regulatory element screening (CERES) approach for improved high throughput screening of regulatory elements in their native context. By combining CRISPR with epigenome modifying proteins, they were able to carry our screens that both inactivated and activated genes via modifications "on top of" the genome. NHGRI helped fund the research through the Genomics of Gene Regulation program.
April 20, 2017: Johns Hopkins Center for Inherited Disease Research Receives $213 Million of New Funding
From Johns Hopkins Medicine: The Johns Hopkins Center for Inherited Disease Research (CIDR) marked its 20-year history supporting large-scale scientific collaboration by securing funding to the center through 2023. CIDR successfully competed for a seven-year contract from the National Institutes of Health (NIH) providing up to $213 million in research funding. The renewal contract enables NIH-funded researchers to use CIDR's sequencing, high-throughput genotyping, analysis and informatics services for a wide array of studies exploring genetic contributions to human health and disease. CIDR is an NHGRI affiliated center.
April 19, 2017: RNA sequencing applied as a tool to solve patients' diagnostic mysteries
From the Broad Institute: Recent advances in large-scale clinical DNA sequencing have led to genetic diagnoses for many rare disease patients, but the diagnosis rate based on these approaches is still far from perfect. On average, clinicians are unable to provide a genetic diagnosis for over half of patients in the clinic. The lack of a clear genetic diagnosis can lead to profound uncertainty about patients' long-term prognoses, treatment options, and family planning decisions. In a new Science Translational Medicine study, a team led by researchers from the Broad Institute of MIT and Harvard and the National Institute of Neurological Disorders and Stroke adds RNA sequencing to the diagnostic toolkit to identify disease-causing mutations buried inside the genome. NHGRI helped fund the research.
April 12, 2017: Rare "knockout" gene mutations in humans help scientists determine gene function
From the Broad Institute: The Human Genome Project mapped nearly 20,000 genes; now, researchers have identified individuals with natural gene-disrupting mutations (so-called "human knockouts") and systematically studied the biological consequences. The project provides a framework for using naturally-occurring genetic variation to gain insight into the function of each gene in the human genome. NHGRI funded the sequencing for this research.
April 11, 2017: NIH researchers trace origin of blood-brain barrier 'sentry cells'
From the Eunice Kennedy Shriver National Institute of Child Health and Human Development: National Institutes of Health researchers studying zebrafish have determined that a population of cells that protect the brain against diseases and harmful substances are not immune cells, as had previously been thought, but instead likely arise from the lining of the circulatory system. This basic science finding may have implications for understanding age-related decline in brain functioning and how HIV infects brain cells. The study, appearing online in eLife, was conducted by researchers at NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and National Human Genome Research Institute and the Japanese National Institute of Genetics.
March 31, 2017: Researchers Find New Genetic Links Underlying Progressively Blinding Eye Disease
From UC San Diego: Writing in the March 30 online issue of Nature Communications, researchers at University of California San Diego School of Medicine, with colleagues at Case Western University, Duke University, the National Institutes of Health and elsewhere, have identified three novel genomic loci - distinct stretches of genetic material on chromosomes - linked to FECD, which often clusters in families and is roughly 39 percent heritable. NHGRI helped fund the research.
March 27, 2017: Pioneering stem cell gene therapy cures infants with bubble baby disease
From UCLA: UCLA researchers have developed a stem cell gene therapy cure for babies born with adenosine deaminase-deficient severe combined immunodeficiency, a rare and life-threatening condition that can be fatal within the first year of life if left untreated. Patients in the study were treated at the NIH Clinical Center by former NHGRI Research Investigators Fabio Candoitti, Rob Sokolic, and current NHGRI R.N. Elizabeth Garabedian in the Office of the Clinical Director.
March 23, 2017: 'Bench to bedside to bench': Scientists call for closer basic-clinical collaborations
From The Jackson Laboratory: In the era of genome sequencing, it's time to update the old "bench-to-bedside" shorthand for how basic research discoveries inform clinical practice, researchers from The Jackson Laboratory (JAX), National Human Genome Research Institute (NHGRI) and institutions across the U.S. declare in a Leading Edge commentary in Cell. In April 2016, NHGRI convened a meeting of leading researchers from 26 institutions to explore ways to build better collaborations between basic scientists and clinical genomicists, in order to link genetic variants with disease causation. The Cell commentary outlines the group's recommendations, which include promoting data sharing and prioritizing clinically relevant genes for functional studies.
February 14, 2017: Diabetes in your DNA? Scientists zero in on the genetic signature of risk
From the University of Michigan: Why do some people get type 2 diabetes, while others who live the same lifestyle never do? For decades, scientists have tried to solve this mystery-and have found more than 80 tiny DNA differences that seem to raise the risk of the disease in some people, or protect others from the damagingly high levels of blood sugar that are its hallmark. But no one "type 2 diabetes signature" has emerged from this search. Now, a team of scientists has reported a discovery that might explain how multiple genetic flaws can lead to the same disease. They've identified something that some of those diabetes-linked genetic defects have in common: they seem to change the way certain cells in the pancreas "read" their genes.The discovery could eventually help lead to more personalized treatments for diabetes. But for now, it's the first demonstration that many type 2 diabetes-linked DNA changes have to do with the same DNA-reading molecule. Called Regulatory Factor X, or RFX, it's a master regulator for a number of genes. The team reporting the findings in a new paper in the Proceedings of the National Academy of Sciences comes from the University of Michigan, National Institutes of Health, Jackson Laboratory for Genomic Medicine, University of North Carolina and University of Southern California. National Human Genome Research Institute researchers were part of the study team.
January 23, 2017: TCGA study identifies genomic features of cervical cancer
From the National Cancer Institute: Investigators with The Cancer Genome Atlas (TCGA) Research Network have identified novel genomic and molecular characteristics of cervical cancer that will aid in the subclassification of the disease and may help target therapies that are most appropriate for each patient. The new study, a comprehensive analysis of the genomes of 178 primary cervical cancers, found that over 70 percent of the tumors had genomic alterations in either one or both of two important cell signaling pathways. The researchers also found, unexpectedly, that a subset of tumors did not show evidence of human papillomavirus (HPV) infection. The study included authors from the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health, and appeared January 23, 2017, in Nature.
January 6, 2017: Familial test helps detect genes that cause complex diseases
From Baylor College of Medicine: A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer's. The method is called the rare-variant generalized disequilibrium test (RV-GDT), and it incorporates rare, as opposed to common, genetic variants into the analysis. In families in which several members are affected by a genetic condition, RV-GDT proved more powerful than other family-based methods in detecting rare genetic variants causing the condition. The results appear in the American Journal of Human Genetics. This research was funded by the National Human Genome Research Institute.
Last Updated: June 13, 2018