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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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.
… Sally Adebamowo*, Michele Ramsay, Bamidele Tayo Polygenic Risk Score (PRS) Methods and Analysis for Populations of … Cohorts and Novel Methods to Improve Polygenic Risk Scores Massachusetts General Hospital Amit Khera … Minnesota Iftikhar Kullo*, Daniel Schaid Polygenic Risk of Disease in Populations of Diverse Ancestry UNC-Chapel Hill …
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).
… identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from Sonia Vallabh and Eric Minikel . After a …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare disease and who need information for their research have … or rare diseases and advocacy groups who want up-to-date disease information for their members have contacted GARD. …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry … role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … fingers, and toes. … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe … hanging nets around beds may help to prevent or reduce the risk of getting infected. For diseases transmitted by snails …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. Various direct-to-consumer companies are making these … Polygenic risk scores report an estimate of the measure of disease risk based on the predicted combined effects of small …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary embolism , proteinuria and chronic kidney disease . Findings from this first comprehensive review of … for pulmonary embolism, proteinuria and chronic kidney disease. They also found a moderate level of evidence of …