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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… in NHGRI's Medical Biochemical Genetics Residency Program . "Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common … NHGRI Medical Biochemical Genetics Residency Program, accumulation of histocytes, new gene discovery … …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… pediatrician and biochemical geneticist in the NIH Undiagnosed Diseases Program (UDP) and the NHGRI Office of the Clinical Director. …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
… Ms. Dayal is a program officer in the Division of Genomic Medicine, National … in 2015, and her portfolio includes the NIH Common Fund Undiagnosed Diseases Network (UDN) and Electronic Medical Records and …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … Treating Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease … Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… Ms. Colley is a program director in the Division of Genomic Medicine, … Program, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research interests include increasing …
Research Training
This program provides doctoral and medical graduates the opportunity to use genomic approaches to advance the growing area of health disparities research
… the growing area of health disparities research … The program is intended to address not only basic, clinical, or … two recent NHGRI fellows: Health disparities research program life-changing for postdoctoral fellows Eligibility … candidate's area of interest. Final acceptance into the program is contingent upon identification of an appropriate …