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- Multi-Omics for Health and Disease (Multi-Omics)1
- 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
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The technique has … in a host of diseases, including Charcot-Marie-Tooth disease, mental disability, other neuropathies, metabolic …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … 4 million newborns worldwide. The most severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing …
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.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in the United States have the disease. CF causes the body to produce thick, sticky mucus … a sample of blood or saliva - is to see if a couple is at risk for giving birth to a child with CF. Carrier testing is …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… adjust well to dark and dimly lit environments. … As the disease progresses and more rod cells breakdown, patients … cells also comes disturbances in color perception. As the disease progresses, rod cells degenerate causing night … adolescents and young adults, with progression of the disease continuing throughout the individual's life. The …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron … absorption. … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate iron … Caucasians of northern European descent are at highest risk. An estimated one million people in the United States …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… recessive). Each type of porphyria carries a different risk that individuals in an affected family will have the disease or transmit it to their children. Porphyria cutanea … Eighty percent of individuals with PCT have an acquired disease that becomes active when factors such as iron, …
Health
Resources about genetic diseases and the importance of knowing your family health history.
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… types of thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the … trait genes - one from each parent - will have the disease. A child of two carriers has a 25 percent chance of … therapy is also an option for carriers who don't want to risk giving birth to a child with thalassemia. A new …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… below the bladder. … Age: A man's age is the strongest risk factor for prostate cancer. It is rare for a man to … prostate cancer than a man without a family history of the disease. One in 10 men who get prostate cancer has hereditary … depends on when the diagnosis is made and how severe the disease is at that time. Small clusters of early stage …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… want to know if their child should be evaluated by a rare disease specialist. Unfortunately, because there usually are … for certain characteristics or symptoms. … Undiagnosed Disease, Genetic Condition, Rare Disease, Healthcare, Clinical Trial, Genetic Counselor … A …