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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
… in 2015, and her portfolio includes the NIH Common Fund Undiagnosed Diseases Network (UDN) and Electronic Medical Records and Genomics …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… Program, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research interests include increasing the …
Research Funding
The EMERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.
… Current Network Participants … Workgroups and Missions Working … about how genomic variation might explain more common diseases. Meanwhile, GWAS studies started to reveal how … to an individual’s risk of developing many common diseases, including cardiovascular disease, diabetes, and …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Prabarna Ganguly, Ph.D. … eMERGE Network will support multiple clinical sites and a … and management methods for a number of common diseases. Approximately half of the clinical sites will … all of which can affect an individual’s risk for certain diseases. The new sites within the eMERGE Network aim to …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … Ph.D., NHGRI clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of … of a patient who is part of the Undiagnosed Diseases Network, will answer questions about rare diseases when they …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … cellular recycling … Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans. … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … Research Institute (NHGRI) Genomics and Randomized Trials Network (GARNET) program ( …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. … A …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… for the eMERGE Genomic Risk Assessment and Management Network funding opportunities. Frequently asked questions … applicants should expect to return all results that the Network determines actionable based on the Network’s … by focusing on phenotypes related to the common, complex diseases selected for genomic risk assessment and management. …