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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
MINC
The MINC teams were made up of an administrator and an educator. They learned a lot from this initiative that they wanted to share with you.
… South Weymouth, MA  Videos  Why did you consider genomics integration into nursing practice as a priority for … Center Flemington, NJ  Videos  Why did you consider genomics integration into nursing practice as a priority for … BSN, MBA, OCN Director Oncology Services OSF Saint Anthony Medical Center Rockford, IL  Videos  Why did you consider …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… patients. They also may lead to new, generalizable medical insights," said James M. Anderson, M.D., Ph.D., … sites are: Baylor College of Medicine, Houston Duke Medical Center, Durham, North Carolina, with Columbia … Hospital, Massachusetts General Hospital), Boston Stanford Medical Center, Stanford, California University of California …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… only and is not intended as a substitute for professional medical care, advice, diagnosis, or treatment. This material … health care provider with any questions regarding your medical care. … Information on just about any disease can be obtained from the published scientific literature. Medical and scientific journals publish articles written for …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
MINC
Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions based on suggested options from the Champions.
… involved in the Method for Introducing a New Competency: Genomics (MINC) into Nursing Practice study. … Journal Clubs: … best poster focused on a special theme. OSF Saint Anthony Medical Center: Call for Posters  DNA DAY-celebration: … Genomics Crossword Puzzle Providence St. Vincent Medical Center Genetics Crossword  Genetic Jeopardy (Central …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… and 3 do affect the nervous system. Type 2 causes serious medical problems beginning in infancy, while Type 3 … and brain damage. In Type 2 Gaucher disease, severe medical problems begin in infancy. These individuals usually … and Parkinson disease is currently being conducted at the Medical Genetics Branch of the National Human Genome Research …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… who are younger than 20 years of age. When given proper medical care, most people who have Crohn's disease are able … The treatment for Crohn's disease usually involves medical care over a long period of time, with regular visits …
Health
The Family Health History Group connects stakeholders, researchers, and thought leaders to share learning, understand barriers in depth, and discuss issues and potential solutions related to the collection of family health history information.
… MCHES® Associate Professor Director, Health Promotion and Genomics Lab Department of Health and Kinesiology Texas A&M … Dept. of Public Health and Primary Care Leiden University Medical Center Kimberly Jacoby Morris, Ph.D. Education … A&M University Brandon Welch, Ph.D. Associate Professor Medical University of South Carolina Robert Wildin, M.D. …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… said Ivona Aksentijevich, M.D., staff scientist in NHGRI's Medical Genetics Branch and study co-author. "This discovery … the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers … and supporting basic, clinical, and translational medical research, and is investigating the causes, …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.