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Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic inflammatory disorder of the bowel, involves any region of the gastrointestinal …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every … achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. Most people …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural Research. Dr. Hanchard will head the Childhood … is the perfect place for further exploration of these disorders,” said Dr. Hanchard. “The studies planned by my …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… in males than in females. The two most common types of hemophilia are hemophilia A (also known as classic … disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX). The two types of hemophilia are caused …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… genetic disorder that results in progressive destruction of the nervous system. … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of … the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. Treatment …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation … with sickle cell disease were not expected to survive childhood. But today, due to preventive drug treatment, …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take place in cells in the body. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research laboratories … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said … disease, mental disability, other neuropathies, metabolic disorders, epilepsy, cardiomyopathy, cancer and amyotrophic …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. … Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine comes …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder. … than most people. Platelets, sticky disc-shaped pieces of cells, form clots to stop bleeding and help wounds heal. … a curiosity that ran in her family. However, when one of Emily’s relatives underwent genetic testing for an …