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- Ethical, Legal and Social Implications (ELSI) Research Program7
- 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
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … fellow at the University of Virginia Cardiovascular Research Center and the University of Virginia Center for … metabolism (FOCM) pathway. They knew that abnormally high blood levels of the amino acid homocysteine are …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… - Break 4:10 PM – Session 5: Computational Tools to Enable Genetic Diagnoses Moderator: Chris Wellington, NHGRI 4:10 PM … much work remains to advance our understanding of the genetic cause of Mendelian conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) is interested in obtaining …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … West Africa and in Finland in the quest to determine the genetic risk factors for adult-onset, Type II diabetes. … into how patients respond to receiving state-of-the-art genetic information, and follow up analysis on the impact of …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
Research Training
The Summer Internship Program in Biomedical Research provides students the opportunity to perform biomedical research with some of the world's best scientists.
… The Summer Internship Program in Biomedical Research provides students at all levels the opportunity to … to better-understanding the underlying causes of human genetic disease, leading to the development of novel methods … and clinical research, at a level geared towards advanced high school and college students. The National Human Genome …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… heritability from common diseases associated with common genetic variants to rare diseases associated with rare … in biology and medicine by applying tools ranging from high-throughput biologic methods, large scale informatics methods, …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … knowledge of genetics and an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … perinatal medicine. In the 5th year, residents work on a research project of their choosing or focus on a clinical … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and … the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year training program is open … the four years of training, there are 18 months of focused research in combined areas of maternal fetal medicine and …