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Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… one in 40,000 live births. … Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor …
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 …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… of important processes in the brain, from controlling gene activity to transmitting messages. The research was …
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 …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most … SCT means that a person has inherited the sickle cell gene from a parent. … Related Content … Systematic review … at increased risk. ​ … sickle cell trait, Vence Bonham, gene variant … Researchers have now identified three health …
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 …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… but there are treatment options, including physical therapy and bracing. Life expectancy is usually normal. CMT … by defects in different genes. … The newly discovered GARS gene (see Gene Discovery Opens Door to Further Research In Inherited …
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 … defective gene, or correcting the defective protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis …
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 …