Search Results
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … of studies that are conducted in humans. Some of the more common studies include clinical trials, case-control studies, …
Policy Issues
This glossary contains definitions for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and Legislative Database.
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop … sites, which will examine conditions such as fatty liver diseases, hepatocellular carcinoma, asthma, chronic kidney … risk and outcomes. Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and … Section have studied rare disorders and discovered new diseases, employing the disciplines of biochemistry, cell … the effort. The success of the UDP has prompted the NIH Common Fund to designate $145M through fiscal year 2020 to …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and … ClinGen and ClinVar seek to combine them into one common central database. In the last two years, nearly 300 …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, … proteins that help determine cell fate often share common features. Investigators also detailed the similar ways … in chromatin because of its potential connection to some diseases, such as cancer. A number of studies have shown that …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… statistical model that can predict the risk for developing diseases by combining information from family members about … US suffer from the condition, making it one of the most common and costly chronic diseases to treat. T2D is known as a complex disease because …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled … are previously undescribed, or are rare forms of more common diseases. The NIH Common Fund awarded four-year grants of approximately $7.2 … NIH names new clinical sites in Undiagnosed Diseases Network …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… , PAGE Consortium , IGNITE Consortium , and the NIH Common Fund Undiagnosed Diseases Network . Her research interests focus on ensuring … implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA , 106(23):9362-7. … genomics training, Undiagnosed Diseases Network, NIH Common Fund …