Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN, is the severest of adverse drug reactions that affects the skin. NHGRI's Division of Genomic Medicine supports research to develop approaches for the use of genome sequencing and other tools to improve diagnosis, treatment and prevention of diseases, such as SJS/TEN, that might have saved a young woman's life.
NHGRI's ENCODE Project has spent 13 years building a catalog of all the functional elements in the human genome sequence, and making it available to scientists worldwide for the study of human health and disease. On February 9, 2017, ENCODE program directors in the Division of Genome Sciences at NHGRI, and ENCODE researchers from the University of California, San Francisco turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community.
Jeffery Schloss, Ph.D. , director of the Division of Genome Sciences at NHGRI, has retired after a successful career leading NHGRI's DNA Sequencing Technology Development Program and launching the Centers of Excellence in Genomics Sciences (CEGS) program. Known for his intellect, leadership and dedication, Dr. Schloss shares the story of his career path and the significant contributions he and his have team made while at NHGRI.
Since accepting its first patient in 2015, the Undiagnosed Diseases Network (UDN) has been working towards creating a model system for diagnosing medical mysteries. The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical management of these disorders; and advance research.
UDN members have now published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful. Read about it in the online version of the American Journal of Human Genetics.
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can only be done by including populations that are the most genetically diverse.Studies have shown that African populations contain the oldest and most diverse set of human genes. However, most studies of the human genome have focused on European ancestry populations. By not exploring genetic variation within African populations, opportunities are missed to advance not only the understanding of disease within those populations, but also for humans across the globe.
NHGRI is awarding $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate than those we already have. These new awards are a re-up in an investment that began in 2004 through the Genome Technology Program.
New NIH grants will fund developing computational approaches to finding the differences in DNA that make people susceptible to disease. The awards, totaling around $11.1 million, support research in identifying these differences - or genetic variants - in the less-studied regions of the genome. Understanding these variants should provide clues to understanding how disease develops.
The practice of medicine is expensive and doesn't fit in a one-hour time frame. Tests can only eliminate one diagnosis at a time. Questioning and family history can help a doctor arrive at the correct diagnosis. But even with the information gathered upfront, there are a huge number of tests to consider, and many tests may still be needed. Training doctors to use genomic sequencing is a powerful solution to the challenges today's medical practice.
The National Institutes of Health recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants support studies to better understand the causes and development of rare disease, and improve diagnoses. The funding establishes two new research centers - a Model Organisms Screening Center and a Metabolomics Core - and six awards to explore how specific genes and their variations may cause disease in UDN patients.
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, "next-generation" DNA sequencing (NGS) methods are as accurate - and perhaps more accurate - than Sanger sequencing, a time-tested technique that is typically used to confirm NGS results. The study may affect DNA sequencing of clinical samples and the diagnostic pipeline for genetic tests.
In a recent study published in the journal Nature Biotechnology, scientists have set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works. A better understanding of chromatin will yield important insights into the genome's working parts and how those parts are managed.
Jeffery Schloss, Ph.D., director of the Division of Genome Sciences at the National Human Genome Research Institute, was honored with the U.S. Department of Health and Human Services (HHS) Career Achievement Award for his work in genome sequencing technology. HHS Secretary Sylvia Mathews Burwell presented the award to Dr. Schloss during the 2014 HHS Departmental Awards Ceremony held in Washington, D.C. on November 17.
In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made significant strides in defining the role of genomics in medicine. CSER is nearing the end of its first round of research awards. To help identify the direction of a potential follow-up program, CSER investigators and colleagues recently met in Bethesda, Maryland, for a one-day conference, Integrating Genomic Sequencing into Clinical Care: CSER and Beyond.
New findings on prostate cancer may enable doctors to make better diagnoses and prognoses for patients and provide novel directions for therapies, according to a study from The Cancer Genome Atlas (TCGA) Network. Investigators published the in-depth analysis of 333 prostate cancer tumors online November 5, 2015 in Cell. TCGA is jointly supported and managed by the National Human Genome Research Institute and the National Cancer Institute, both parts of the National Institutes of Health.
In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, especially, disclosing findings. CSER was established to speed the integration of genomics into clinical practice and is funded by NHGRI and the National Cancer Institute (NCI), both part of the National Institutes of Health. The study was published today, Sept. 14, 2015, in the advanced online issue of Pediatrics.
When the Centers for Mendelian Genomics (CMGs) program was launched nearly four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as possible. CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions, while also uncovering new, previously unknown conditions and learning important details about the development of many others that scientists had described before.
On June 8-9, international experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by the National Human Genome Research Institute, part of the National Institutes of Health (NIH), and held in Rockville, Maryland. In a series of nine panels, speakers addressed topics of broad interest across NHGRI programs, including interpreting genomic variants, handling genomic data, and diversity in research populations.
A pair of studies from investigators with The Cancer Genome Atlas (TCGA) Research Network has provided new insight into the genomic workings of the deadly types of brain and skin cancer. The findings point to new ways of classifying these cancers based on genomics, which should lead to smarter ways to predict disease behavior and better decisions about treatment. The results were reported in the June 18, online edition of Cell.
Translational genomic medicine research - the effort to turn genomic discoveries into tools and therapies to prevent, delay or cure disease-is going global. On the heels of an international symposium last year called "Global Leaders in Genomic Medicine," top genome scientists from more than 20 countries have joined forces to improve cooperation and coordination of genomic medicine research worldwide. A summary of the symposium is now published in the June 3, 2015, issue of Science Translational Medicine.
In a special report appearing online May 27, 2015, in the New England Journal of Medicine, investigators with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program is evaluating the clinical relevance of genomic variants for use in precision medicine and research. ClinGen, launched in 2013, is funded by the National Human Genome Research Institute (NHGRI), with co-funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Cancer Institute, all part of NIH.
Nearly 20 papers published online in 2014 highlight research on the use of DNA biorepositories and electronic medical records (EMRs) to understand the underlying genomics of disease. The papers appeared in Frontiers in Genetics and were co-authored by members of the Electronic Medical Records and Genomics (eMERGE) Network, which is supported by NHGRI.
New National Institutes of Health (NIH) grants aim to gauge if genomics can help diagnose diabetes, keep heart disease patients out of hospitals and guide cancer clinicians and patients to the most effective drugs. These pilot demonstration awards, totaling more than $11 million, are part of the Implementing Genomics in Practice (IGNITE) program administered by the National Human Genome Research Institute, part of NIH.
In the second phase of the Human Microbiome Project, three research teams funded by the National Institutes of Health (NIH) are gathering data at the most basic molecular levels about the biological processes that make up the host-microbiome ecosystem. The three conditions chosen as test beds - because of their wide impact and because they can serve as models of other microbiome-associated human conditions - are pregnancy and preterm birth, onset of inflammatory bowel disease and onset of type 2 diabetes.
The National Human Genome Research Institute held a workshop on the future of its flagship Genome Sequencing Program (GSP) - Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National Human Genome Research Institute - on July 28-29. Workshop organizer and GSP program director, Adam Felsenfeld, Ph.D., acknowledged the many challenges ahead for NHGRI and the field of genomics - especially in the areas of clinical genomics and genetic variation associated with common diseases.
On July 28-29, genome researchers, clinicians, computational biologists and others will meet in Bethesda, Md. to consider the possible size, scope and future opportunities for the National Human Genome Research Institute's (NHGRI) Genome Sequencing Program (GSP). Future Opportunities for Genome Sequencing and Beyond: A Planning Workshop for the National Human Genome Research Institute will be webcast live starting at 8:30 a.m. Eastern on July 28.
The Ethical, Legal and Social Implications Program, established in 1990 at NHGRI as an "experimnt", is now the largest bioethics extramural research program at NIH and funds more studies in ethical, legal and social issues related to genomics and genetics than any other program nationwide. Writing in the Annual Review of Genomics and Human Genetics, long-term leaders in the program reflect on more than two decades of ELSI's existence.
In a paper appearing April 24, 2014, in the journal Nature, authors recommended a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes that have large effects on an individual's risk for developing rare diseases. These same approaches might help researchers identify variants that affect complex diseases such as cancer and cardiovascular disease.
At the Global Leaders in Genomic Medicine meeting, held Jan. 8-9 at the National Academy of Sciences in Washington, D.C., both large and small countries are creating innovative programs and plans for implementing genomic medicine. The two-day meeting sponsored by NHGRI recommended ways to improve the use of genomics in medicine.
When researchers with The Cancer Genome Atlas (TCGA) began noticing genomic similarities among individual cancers, they launched the Pan-Cancer initiative as a next logical step in identifying patterns in many diseases. The Pan-Cancer reports are increasingly creating topographic maps across cancers, charting the roads that therapies might take. Such maps, along with new approaches, have the potential to change the way researchers and clinicians understand and attack cancer.
The National Institutes of Health (NIH) Common Fund took a major step toward shaping its multi-site Undiagnosed Diseases Network (UDN) with the selection of Harvard Medical School as the UDN Coordinating Center. The $9 million, four-year award begins the expansion of the NIH Undiagnosed Diseases Program to which doctors across the country have turned for help in diagnosing their patients' puzzling conditions.
Using nanopores to sequence DNA offers many potential advantages over current methods. It costs less, and can be done faster, in real time. The same molecule can be studied over and over again. Most current techniques are more complicated than that. Developing nanopore sequencing, a fast and inexpensive method of sequencing DNA, could have a dramatic effect on clinical care and research.
This past summer, NHGRI awarded two Specialized Center grants and three Exploratory Center grants under its Centers for Excellence in Ethical, Legal and Social Implications Research (CEERs) program. Some of the research areas the grants will support will investigate how families respond to genetic risk, how the genome affects response to the flu virus and human research subject protection issues.
Investigators with The Cancer Genome Atlas (TCGA) Research Network have discovered new details about key genes, proteins and pathways in a common type of brain cancer that will kill 14,000 people this year. These findings, based on the most comprehensive genomic survey of glioblastoma multiforme (GBM) to date, may lead to a better understanding of the disease's development and growth and, ultimately, to new treatments and diagnostic targets.
Investigators in The Cancer Genome Atlas have created the Pan-Cancer project to sort out genomic similarities across cancers, hoping this research will lead to tailored treatments. A new commentary in Nature Genetics describes the program, and two accompanying studies provide the promise that scientists are on the right track.
Nearly 250 scientists - including microbiologists, physicians, biologists, computational biologists, epidemiologists, bioethicists, ecologists and even a psychiatrist - gathered recently in Bethesda, Md., for Human Microbiome: Vision for the Future, a meeting that assessed the current state of human microbiome research and crafted a plan for its future.
Survey after survey shows that most physicians see genomics as crucial to major advances in disease diagnostics, treatment and prevention. But discovering how they can best use genomics in taking care of patients remains a challenge. Several new grants from NHGRI will address these challenges and help find solutions.
An international team of researchers has uncovered new evidence of potential genetic influences on blood lipid levels in three ethnic groups: African Americans, East Asians and Europeans. The results may lead to new insights into how genes affect the development of unhealthy levels of cholesterol, help explain differences in risks for heart disease and lead to new potential treatment strategies.
National Human Genome Research Institute staff highlighted several major institute programs at the recent 67th meeting of the National Advisory Council for Human Genome Research, offering insights into some of the institute's progress and innovation over the last several years, and providing glimpses into the future. At the meeting - held February 11-12 in Rockville, Md. - council members heard about The Cancer Genome Atlas (TCGA), the Genotype-Tissue Expression (GTEx) project, the Human Hereditary and Health in Africa (H3Africa) project, and the status of the Centers of Excellence in Genomic Science (CEGS), a centerpiece of NHGRI's Extramural Research Program.
The architects of the biobank wanted nothing left to chance and everything well documented. That's why they developed 150 standard operating procedures to ensure that tissue samples were collected, processed, and stored in exactly the same way. And they collected data on the best temperatures for shipping the samples across the United States. All that planning is paying off for the Genotype-Tissue Expression (GTEx) project, which will use the samples to investigate how genes are regulated in health and disease.
The goal of sequencing a human genome for $1000 is well within reach, but that's just the beginning of the story. Once a genome is sequenced, researchers are left with the formidable challenge of analyzing and interpreting its embedded code - a complex task that requires sophisticated data analysis tools.
On June 20-21, NHGRI will host a special symposium to celebrate modENCODE, an NHGRI project that nears completion this year. The goal of modENCODE was to create a comprehensive catalog of functional elements in the Drosophila melanogaster (fruit fly) and Caenorhabditis elegans (worm) and freely distribute the data to the research community.
The world's largest set of data on human genetic variation - produced by the international 1000 Genomes Project - is now publicly available on the Amazon Web Services (AWS) cloud, the National Institutes of Health (NIH) and AWS jointly announced today.
New standardized substance abuse and addiction measures, published February 24 on the PhenX Toolkit, will make it easier for researchers to combine studies and gain the much-needed statistical power to identify gene-gene or gene-environment interactions. The substance abuse and addiction measures are part of the Consensus Measures for Phenotype and eXposures Toolkit (PhenX).
On October 4, the National Human Genome Research Institute (NHGRI) released three new Requests for Applications (RFAs) in which it announced plans to invest more than $120 million over four years (or about $31.5 million in FY 2012) to expand Encyclopedia of DNA Elements (ENCODE) research. (more)
Researchers with bold, paradigm-shifting ideas that will accelerate the translation of research into improved health outcomes can now apply for up to $25 million from the NIH Director's Transformative Research Award initiative.
The National Human Genome Research Institute (NHGRI) today awarded seven grants, totaling $5.7 million, aimed at untangling one of the knottiest ethical issues facing genomic researchers. Under the microscope are issues around if, when and how researchers should return to study participants information about their risk for diseases or conditions discovered during studies of their genomes.
If Little Orphan Annie had a DNA sequencing machine at Daddy Warbucks' mansion, she would probably start by sequencing the genome of a lizard to see why it leaped. And, she might be interested to discover that some elements of the lizard genome are active, mobile and, yes, still leaping. That's what researchers have discovered from analyzing the genome of the first lizard, the North American green anole.
The most successful scientific researchers hone their grant writing skills in order to compete for increasingly scarce funding. The National Human Genome Research Institute wants to help you write successful grant applications with tips to guide you through the process from Bettie Graham, Ph.D., a pro in grants administration for more than 30 years.
African researchers may now apply for funding to build genomic research facilities and expertise and to conduct genomic studies in Africa. The grants are part of the Human Heredity and Health in Africa project, or H3Africa, which aim to identify rare genetic variations in Africans that may affect people around the world.
By linking data about patients' genes with descriptions of their diseases via Electronic Medical Records (EMR), doctors may someday be able to customize patients' treatments and outcomes. This is the goal of the Electronic Medical Records and Genomics, or eMERGE, network, which was formed in 2007 by NHGRI with support from the National Institute of General Medical Sciences.
NHGRI's Ethical, Legal and Social Implications (ELSI) research program has re-focused its research to stay in step with genomic advances. The program is now aligned with NHGRI's new strategic plan for the future of genomics, Charting a Course for Genomic Medicine from Base Pairs to Bedside published in the journal Nature in February. NHGRI has issued three new program announcements to support studies that address the most pressing ELSI issues.
The National Human Genome Research Institute is offering up to $5.75 million in new funding opportunities to support the development and use of novel analytical methods and efficient high-throughput technologies to comprehensively characterize the organization and function of genomes. The work builds on both the ENCODE and modENCODE projects, which catalog elements that are part of the genome that control gene activity in cells.
Leaders of the Genome 10K project, an effort to collect and sequence the DNA of 10,000 vertebrate species have tapped into "crowdsourcing" to improve how all those eventual sequenced genomes are assembled for analysis. Last week, the initial results of The Assemblathon a crowdsourced research genome assembly challenge associated with the Genome 10K project, were presented at the Biology of Genomes meeting at Cold Spring Harbor Laboratory in New York .
Researchers confronted a plethora of plenaries, sessions, workshops and posters on the ethical, legal and social implications (ELSI) of genomic research at Exploring the ELSI Universe, the 2011 ELSI Research Congress held April 12-14 in Chapel Hill, N.C. The meeting offered 350 attendees sessions on diverse ELSI topics, from the genetics of antisocial behavior to the relationship between tissue donors and biobanks.
The ENCyclopedia of DNA Elements (ENCODE) Consortium published a user's guide and tutorial in the April 2011 issue of PLoS Biology. The tutorials are expected to help researchers use the insights into cellular regulation of the genome and the networks of biological interactions of the parts identified by ENCODE to advance their own studies.
NHGRI is pleased to announce supplemental funding to researchers who incorporate standardized measures available from the Consensus Measures for Phenotype and eXposures (PhenX) Toolkit. Such measures allow researcher to accurately record research subjects' physical characteristics and environmental exposures.
We are nearing the day when a small blood sample can be rapidly sequenced on a handheld device in your doctor's office. By analyzing your DNA, your doctor will have critical information on your current health status and the diseases to which you might be vulnerable in the future. Nanopore sequencing, as it is known, is just one of many promising technologies currently being pursued by National Human Genome Research grantees to achieve high quality human genome sequencing for $1000 or less.
The National Human Genome Research Institute (NHGRI) has started the new year with a bang, offering about $90 million in new funding opportunities to continue its support of large genome sequencing and analysis centers that are the hallmark of its flagship Large-Scale Sequencing Program.
Recent news articles marking the tenth anniversary of the announcement of the first draft sequence of the human genome also predicted the rise of DNA sequencing technologies that sequence a human genome for $1,000 or less in the next three to five years, a development that would change the face of biomedical research and clinical practice.
A full 472 knockout mouse lines - all extensively characterized (phenotyped) - are now publicly available from the National Institutes of Health's Mutant Mouse Regional Resource Center (MMRRC) at the University of California, Davis. Distribution of the lines is supported by the National Center for Research Resources (NCRR) and the NIH-funded Knockout Mouse Project (KOMP) repository, operated by UC Davis and the Children's Hospital Oakland Research Institute in Oakland, Calif.
The NHGRI Large-Scale Sequencing Program comes up for renewal in fiscal year 2011 and the institute's program managers recently recommended to the National Advisory Council of Human Genome Research that the program's sequencing and analysis centers remain on line. The rational is fairly straightforward: there is still so much to learn and the expertise provided by such centers is the most efficient way to learn it. Moreover, the current sequencing centers already have shown their ability to help this field of research transition from basic studies to those with medical value.
With NexGen sequencing machines generating cheap DNA data in record amounts, genomics researchers have been on "cloud nine". Except for one thing: the data pouring out of the gene machines are swamping computer infrastructures everywhere - from the smallest RO1 lab to the biggest sequencing center. A solution, however, may be in the clouds - clouds of computers, that is.
National Human Genome Research Institute advisor and grantee, William M. Gelbart, Ph.D., Harvard University professor of molecular and cell biology, is the recipient of the 2010 Genetic Society of America's (GSA) George W. Beadle award for "outstanding contributions to the community of genetic researchers." Dr. Gelbart was nominated and selected for the honor by his peers for the value of his contributions to the field of genetics.
The National Human Genome Research Institute awards more than $113 million provided by the American Recovery and Reinvestment Act. The new awards, added to NHGRI's regularly appropriated $367 million budget, will stimulate ground-breaking research ranging from studies aimed at understanding the human genome to those intended to lead to improvements in the prevention, diagnosis and treatment of human illness.
Two National Human Genome Research Institute grantees, Alice Y. Ting, Ph.D., and Saeed Tavazoie, Ph.D., are among the 15 scientists of exceptional creativity chosen to receive a 2008 NIH Director's Pioneer Award. The awards enable researchers to pursue innovative approaches that could possibly transform biomedical and behavioral science.
The National Human Genome Research Institute (NHGRI) is now accepting requests from researchers who want access to data from two cancer sequencing projects being conducted as part of its Medical Sequencing Program. The goal is to harness the power of NHGRI's large-scale sequencing centers to help turn DNA sequencing into a tool for clinical research and medical practice.
Titia de Lange, Ph.D., Leon Hess professor and head of the Laboratory of Cell Biology and Genetics at The Rockefeller University in New York, was named one of 13 recipients of a 2005 National Institutes of Health (NIH) Director's Pioneer Award. The award, announced on Sept. 29, will provide Dr. de Lange with up to $500,000 in direct costs per year for five years to fund research in teleomeres. The National Human Genome Research Institute (NHGRI) will fund de Lange's award for four out of the five years, totaling $2 million in support.
Stephen R. Quake, Ph.D., a researcher funded by the National Human Genome Research Institute (NHGRI), is among the first recipients of the National Institutes of Health (NIH) Director's Pioneer Award, which were announced on Wednesday, September 29, 2004. Dr. Quake, formerly of the California Institute of Technology, and currently a professor of bioengineering at Stanford University has received substantial funding from NHGRI for highly innovative research that may dramatically improve the technologies used to advance genomics. NHGRI first supported Dr. Quake with a FIRST award for new investigators in 1997 for his work in developing integrated nanofluidic chip systems and novel chemistry for single molecule DNA sequencing.
Last Updated: March 27, 2017