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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people … Human Genome Research Institute (NHGRI) and the Division of Rare Diseases Research Innovation (DRDRI) at the National …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can … pressure as an adult. Learning about the health history of your family and sharing this information with your health …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people … with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead … Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The progressive expansion … National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Genetic Epidemiology … Genetic epidemiology is a relatively … factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, … disease in groups and the multifactorial causes of genetic diseases in populations. … Genetic epidemiology is a …
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 investigation by researchers at …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and … will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … degeneration of the muscles and loss of sensation. … Genetic Disorders …
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 …