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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… progeria is caused by a tiny, point mutation in a single gene, known as lamin A ( LMNA ). Parents and siblings of … approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… author. Dr. Biesecker and his colleagues discovered the gene variant responsible for Proteus syndrome in 2011. "The … caused by a spontaneous (not inherited) variation in the gene AKT1 that alters the ability of affected cells to … treating cancers that were activated by a variant of the gene AKT1 , the same gene pathway affected in Proteus …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be …
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.
… person needs to inherit two altered (mutated) copies of a gene - one from each parent - to develop the disease. The … with Wilson disease each carry one mutated copy of the gene and one normal copy of the gene, so they do not show signs or symptoms of the disease. …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… is caused by the malfunction of OTULIN, a single gene on chromosome 5. When functioning properly, OTULIN … and economically ). Once they found that the OTULIN gene was abnormal in the sick children, they studied the …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… to determine the specific genetic mutations (changes in gene sequence) that caused the normal, healthy cells to … will enable the development of effective and reliable gene-based diagnostic tests, and can lay the foundation for …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… have a role in inherited risk for prostate cancer. Certain gene changes (mutations) have been found to increase the risk …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… Some forms of porphyria result from inheriting one altered gene from one parent (autosomal dominant). Other forms result …
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).
… type 2). … The disease results when a malfunctioning gene hampers a person's ability to produce the enzyme ADA2 … , and a group in Israel, independently discovered the gene variant that causes the disease using a genomic …