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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… the dysfunction occurs in the peripheral nerves: In CMT type 1 , the peripheral nerves' axons - the part of the nerve … myelin sheaths. This disrupts the axons' function. In CMT type 2 , the axons' responses are diminished due to a defect …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… genes, one from each parent (autosomal recessive). Each type of porphyria carries a different risk that individuals … it to their children. Porphyria cutanea tarda (PCT) is a type of porphyria that is most often not inherited. Eighty … in an autosomal dominant pattern. The most common type of porphyria. It occurs in an estimated 1 in 25,000 …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… National Human Genome Research Institute. … Lymphocytes, a type of white blood cell, are made from blood forming … into B cells and natural killer cells. Each specialized type of cell is responsible for a particular immune response. … for several types of cytokines, including the interleukin-2 (IL-2) receptor. Thus, it is a critical component for …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. This condition is found in all ethnic … and determines their genotype. Alpha-1 antitrypsin PI type of phenotype test, which determines the type of AAT protein that a person has. Alpha-1 antitrypsin …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… five HNPCC genes have been discovered: MSH2 on chromosome 2 MLH1 on chromosome 3 PMS2 on chromosome 7 MSH6 on chromosome 2 PMS1 on chromosome 2 Mutations in MSH2 and MLH1 are the most common mutations …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… can be difficult to stop. Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males … traits to their sons. A female who is a carrier has a 1 in 2 (50 percent) chance to pass on her X chromosome with the … A or B to a boy who will be affected. She has a 1 in 2 (50 percent) chance to pass on her X chromosome with the …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… isolated MMA, where only methylmalonic acid is elevated 2) patients with combined defects who also have increased … in at least three other genes. The cobalamin A (cblA) type of methylmalonic acidemia is caused by mutations in the MMAA gene. The cobalamin B (cblB) type of methylmalonic acidemia is caused by mutations in the …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… between attacks ranging from days to years. Moreover, the type of attack - whether abdominal, pleural or arthritic - … as FMF. Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… mutation are at somewhat higher than average risk for a type of clot that forms in large veins in the legs (deep … may have up to 80 times the usual risk of developing this type of blood clot. Considering that the risk of developing …