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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- 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
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Institutes of Health (NIH) will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in … Nir Hacohen, Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… and specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. … and coordinating new sequencing projects, policy related to deposition and release of human sequence data, and … and is coordinator for the Centers of Excellence in Genomic Sciences Program. Dr. Felsenfeld is also involved …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and … and a coordinating center. The UDN is supported by the NIH Common Fund and builds on the success of the Undiagnosed … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease … of the spine). People with CMT disease usually begin to experience symptoms in adolescence or early adulthood. … a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… will use support from the National Institutes of Health to conduct research into the genetic underpinnings of … participants free of the disorder. They also will study genomic data from 111 large families, a portion of which are … that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)  …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… sanitation, substandard housing and little or no access to health care. … Diseases are said to be neglected if they … the United States with high rates of poverty.  … The most common type of neglected diseases are tropical diseases. Many … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
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.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, 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, National Human Genome Research Institute … Loan Repayment Program, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research … of the biomedical workforce and leveraging genomics to improve human health. Ms. Colley received her M.S. in …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … enough glucocerbrosidase. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous … and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … stiffness in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the … able to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most …