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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
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… and the co-factors for metabolism. A mutation causes a gene to not function at all or not to function as well as it … Of Metabolism, Genetic Disorders, Genetic Condition, Gene Mutation … Inborn errors of metabolism are disorders …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… by defects in different genes. … The newly discovered GARS gene (see Gene Discovery Opens Door to Further Research In Inherited … in an autosomal dominant fashion. Even though the GARS gene is implicated in only two specific types of CMT, this …
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.
… required in order to digest food. … Mutations in a single gene - the Cystic Fibrosis Transmembrane Regulator (CFTR) gene - causes CF. The gene was discovered in 1989. Since … center is becoming a repository for data derived from gene expression studies. By pooling information, researchers hope …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… make breathing difficult. Everyone has two copies of the gene for AAT and receives one copy of the gene from each parent. Most people have two normal copies of the alpha-1 antitrypsin gene. Individuals with AATD have one normal copy and one …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… common in other populations. A mutation in the factor V gene (F5) increases the risk of developing factor V Leiden … individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have … years. This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children. The altered gene (gene mutation) that causes familial …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… who received two copies of the mutant (altered) gene that causes FMF, one from each parent. As many as 1 in 5 … Arab and Turkish heritage have one mutant copy of the gene and are therefore carriers of FMF, which means they carry the mutant gene but do not suffer from FMF themselves. Located on the …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… (FIX). The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of … Marfan patient(also known as genetic linkage to the gene). The FBN1 gene is the gene associated with the true Marfan syndrome. …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents … If a child inherits only one copy of the defective gene (from either parent), there is a 50 percent chance that …