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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
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… FAP (familial adenomatous polyposis) So far, only one gene has been discovered that leads to FAP: the APC gene, located on human chromosome 5. However, over 300 different mutations have been identified in this APC gene. Individuals with this syndrome develop many polyps in …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… But hereditary breast cancer - caused by a mutant gene passed from parents to their children - is rare. … as 27 percent of all breast cancers. In 1994, the first gene associated with breast cancer - BRCA1 (for BReast … was identified on chromosome 17. A year later, a second gene associated with breast cancer - BRCA2 - was discovered …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… On the other hand, a young person who knows of a PKD gene mutation may be able to forestall the disease through … In this form, one out of a person's two copies of the gene must be altered in order for the person to develop … Kidney Disease, PKD, PKD Treatment, Kidney, Cysts, PKD1 Gene, PKD2 Gene … Autosomal Dominant Polycystic Kidney …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes … (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to … Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. …
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 …