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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
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell … you have an increased chance of getting some common diseases. Your health care provider can then give you …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing admissions to undergo … field. To get involved, or for questions, please contact Program Director Lori Erby at lori.erby@nih.gov . Drawing on … and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive graduate program that addresses …
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 …
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
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 …
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 …