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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
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.
… Jacoby Morris, Ph.D. Education Specialist National Human Genome Research Institute National Institutes of Health Muin … Ph.D. Provider Education Specialist National Human Genome Research Institute National Institutes of Health Lori …
MINC
Anticipating obstacles and challenges can help you plan strategies and methods for addressing them before they cause you a bottleneck in your progress.
News Release
As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day.
… eases the process. Developed by the National Human Genome Research Institute and managed by the Office of the …
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.
MINC
Now that you’ve begun, you need to consider how to make it last. Consider sustainability and even expansion of your efforts.
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… to the work were researchers from the National Human Genome Research Institute (NHGRI), the National Institute of … Additional information about NHGRI can be found at: www.genome.gov . NIAID conducts and supports research at NIH, …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… of any specific tests and products by the National Human Genome Research Institute or the Office of Rare Diseases at … jargon. NHGRI Talking Glossary of Genetic Terms www.genome.gov/Glossary The NHGRI Talking Glossary of Genetic … in Research  [rarediseases.info.nih.gov] NHGRI www.genome.gov  and ORDR rarediseases.info.nih.gov The National …
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).
… Ombrello, M.D., a staff clinician at the National Human Genome Research Institute (NHGRI), part of NIH. "Since … using a genomic technique called whole exome sequencing. "Genome sequencing provided the key link that tied together …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. … research on Gaucher disease can be found at www.genome.gov/Staff/Sidransky . Additional Resources on Gaucher …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.