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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
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… cardiofacial syndrome. As a result of this deletion, about 30 genes are generally absent from this chromosome. VCFS affects about 1 in 4,000 newborns. VCFS may affect more individuals, … often have learning difficulties and developmental delays. About 65 percent of individuals with the 22q11.2 deletion are …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… from each of his/her parents. Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general … Head of the Molecular Neurogenetics Section. Information about Dr. Sidransky's research on Gaucher disease can be … for Gaucher disease? … Is Gaucher disease inherited? … About Gaucher Disease … Gaucher disease is an autosomal …
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 affects about one in 30,000 people. Wilson disease causes a person's … who show signs of neurologic damage. They are found in about half of people who have only signs of liver damage. … taken back up by the central nervous system. In addition, about one-quarter to one-third of people treated with …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… and walk. Physical therapy can help with these problems. About 40 - 60 percent of babies born with Down syndrome have … Congress MUMS National Parent-to-Parent Network Facts About Down Syndrome Genetics and Rare Diseases Information … for Down syndrome? … Is Down syndrome inherited? … About Down Syndrome … Down syndrome is a chromosomal …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… can have Crohn's disease. It can also run in families. About 20 percent (1 in 5) of people who have Crohn's disease … usually diagnosed in people between the ages of 20 - 30. About 25 percent of new Crohn's disease diagnoses are made in … for Crohn's disease? … Is Crohn's disease inherited? … About Crohn's Disease … Crohn's disease is a chronic …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… and cognitive decline. In the United States alone, about 30,000 people have HD. In addition, 35,000 people … technologies. Animal models: Scientists hope to learn more about the symptoms and progression of the disease by breeding … with the disease elect to be tested to resolve uncertainty about their future. A negative test relieves anxiety and …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… of muscular dystrophy that begins in adulthood. It affects about 1 in 8,000 people worldwide. Type 1 myotonic dystrophy … myotonic dystrophy? … Is myotonic dystrophy inherited? … About Myotonic Dystrophy … Myotonic dystrophy is an inherited …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… cancer, or ovarian cancer can talk with their doctors about their risk and genetic counseling. Genetic counselors can take a detailed family history and talk about their risk for prostate cancer, and whether genetic … testing is appropriate for them. For more information about genetic counseling go to the Genetics Home Reference . …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… been identified to date. Noonan syndrome is present in about 1 in 1,000 to 1 in 2,500 people. … Symptoms of Noonan … for between 10 and 15 percent of Noonan syndrome cases. About 5 percent of people with Noonan syndrome have mutations … one copy of an altered gene that causes the disorder. In about one-third to two-thirds of families one of the parents …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in … expanded. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, … problems with tremors and poor coordination. … People with about 55 to 200 repeats of the CGG segment are said to have …