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- 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 Awards1
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Diversity Center
The Morehouse School of Medicine established the Center of Genomic Diversity that aims to create a transformative impact on genomics research and health outcomes in minority populations, fostering an inclusive and equitable research environment.
… Morehouse School of Medicine (MSM) will build a world-class genomics research … that is sustainable and impactful, particularly in addressing health disparities in minority populations. … genomic connections to health in racially and ancestrally diverse cohorts. The center aims to create a transformative …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… hereditary. VCFS is characterized by a combination of medical problems that vary from child to child. These … medical problems include: cleft palate, or an opening in the roof of the mouth, and other differences in the … of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Grantees  Institution (Contact PI) PIs Title University of Maryland, Baltimore Sally Adebamowo*, Michele Ramsay, … Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry — Study Sites University of Southern … California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some eye muscles to contract when … disorder the individual has. However, other conditions and syndromes have been found in association with DS. These include malformation of the skeleton, ears, eyes, kidneys and nervous …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… Faherty … Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or abnormalities that tend to occur … Disease … A syndrome, as related to genetics, is a group of traits or conditions that tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is a collection …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Genomics … Population genomics is the application of genomic technologies to understand populations of organisms. … Gene, Genome, Genetic Variation, Allele, Founder Effect, Genetic Drift, HapMap, Human Genome Project … Population genomics is the large-scale …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… Ph.D. … NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit … better understand how genomic variants influence the risk of forming certain diseases in people of different ethnic groups. The work was funded by the National Human Genome Research Institute (NHGRI) and the National …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 live born infants. … People who have Down … loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … Down Syndrome National Institute of Child Health and Human Development th and Human Development. MedlinePlus …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… an inherited intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in …