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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
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 …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … Attention Deficit Hyperactivity Disorder …
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 methylmalonic acidemia have mutations in the MUT gene. This gene provides instructions for making an enzyme called … certain lipids, and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by … with Noonan syndrome have mutations in the PTPN11 gene. Twenty percent of those with Noonan Syndrome have …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood cells and … before birth (during fetal development). After birth, a gene that codes for a blocking protein (BCL11A) is turned on. … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… is based on clinical findings. Mutations in the CHN1 gene are associated with familial isolated Duane syndrome. Direct sequencing of the CHN1 gene is available as a clinical test, and has to date … a copy of the gene from both parents is needed for expression.) The chromosomal location of the proposed gene …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… of SCID became the first human illness treated by human gene therapy in 1990, a process in which a normal gene was transferred into the defective white blood cells of … common type of SCID is called XSCID because the mutated gene, which normally produces a receptor for activation …