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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 Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… they are required in order to digest food. … Mutations in a single gene - the Cystic Fibrosis Transmembrane Regulator … protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis Gene therapy offers great promise for … other organs affected by CF. Genetic Research May Lead to New Drugs to Treat Cystic Fibrosis Another research …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… common skin cancer is basal cell carcinoma, which accounts for more than 90 percent of all skin cancers in the United … cancer. In the United States, for example, the number of new cases of melanoma has more than doubled in the past 20 … skin cancer are the most common: Basal cell carcinoma is a slow-growing cancer that seldom spreads to other parts of …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe … to protect him from infections. He lived in such isolators for nearly 13 years. David died in 1984 following an … for all newborns affordable, an automated screening method that could process hundreds of samples every day with …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a … death. A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. The … want to risk giving birth to a child with thalassemia. A new technique, pre-implantation genetic diagnosis (PGD), used …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually … in people between the ages of 20 - 30. About 25 percent of new Crohn's disease diagnoses are made in persons who are … disease are helping to increase the quality of life for people who have Crohn's disease. … The symptoms of …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, … in adolescence or early adulthood. There is no cure for the disease, but there are treatment options, including … the GARS gene and its family may provide a rich new resource for scientists investigating inherited and …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have … but can pass the defective gene on to their children. New Treatments Prolong Life: Until recently, people with …
Fact Sheet
En la actualidad, la terapia génica para la enfermedad de células falciformes se considera experimental y solo está a su disposición si participa en un estudio clínico.
… de enfermedad de células falciformes, su respuesta a otros tratamientos, si está recibiendo algún otro … Haga preguntas. Si todavía no comprende algo, vuelva a preguntar o pida hablar con otra persona. Conozca los … células madre de su médula ósea o de su sangre, someterlas a una modificación en el laboratorio y devolverlas a su …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … COL1A2 .The COL1A1 and COL1A2 genes provide instructions for making proteins that are used to create a larger molecule … the condition. Usually, the cause in these families is a new mutation in the egg or sperm or very early embryo in the …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… which derives its name from "geras," the Greek word for old age, is estimated to affect one in 4 million newborns … with progeria usually appear normal. However, within a year, their growth rate slows and they soon are much … with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental …