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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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 … researchers observed significant improvement in laboratory studies such as inflammatory markers, iron and red blood cell …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… … Family Health History Group … Tools … Events … Case Studies … Family Health History for Healthcare Professionals …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Center (GARD)  was created in 2002 by the National Human Genome Research Institute (NHGRI) and the Division of Rare … Disease, Gene Therapy, Diagnosing A Disease, DNA Sequence, Genome Sequence, Undiagnosed Diseases Network … The Genetic …
MINC
As genomic competencies have been delineated for all nurses, this presented an opportunity to provide support to nurse leaders to become aware of, plan for, and begin to incorporate genomics into practice.
… and strategies to consider. … Funding: The National Human Genome Research Institute provided funding for development of …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… : Collection of unfolding video genetic and genomic case studies for use with students and practicing healthcare … (PDQ) NCI Colorectal Cancer Risk Assessment Too … Clinical Genome Resource (ClinGen) : Resource that collects phenotypic and clinical information on variants across the genome, develops consensus approaches to identifying their …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… to the CFTR cells in the airways of the lung. Subsequent studies have tested other methods of gene delivery, such as … fibrosis. Researchers at the University of Washington's Genome Center and at PathoGenesis Corporation have completed … a repository for data derived from gene expression studies. By pooling information, researchers hope to …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… are still alive and continue to participate in on-going studies by physicians at the National Human Genome Research Institute. … Lymphocytes, a type of white … testing has prohibited newborn screening on a population-wide basis. To make screening for all newborns affordable, an …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… in genetics and genomics, created by the National Human Genome Research Institute's (NHGRI) Genomic Healthcare …
MINC
Anticipating obstacles and challenges can help you plan strategies and methods for addressing them before they cause you a bottleneck in your progress.
… issues such as personal injury, retirement, and doctoral studies will require some modification and team changes …
MINC
Now that you’ve begun, you need to consider how to make it last. Consider sustainability and even expansion of your efforts.
… Possible? A Review and Commentary on Empirical Studies of Program Sustainability . American Journal of …