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Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some eye muscles to contract when … binocular vision and compensate for improper turning of the eyes. In about 80 percent of cases of DS, only one eye … is a rare, congenital eye movement disorder. … Genetic Disorders …
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.
… Prabarna Ganguly, Ph.D. … Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … The National … 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
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 … diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
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 … of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a … common form of disproportionate short stature. … Genetic Disorders …
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
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. … Tay-Sachs disease (TSD) is a fatal … the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. Treatment … progressive destruction of the nervous system. … Genetic Disorders …
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. … Sickle cell disease … with sickle cell disease were not expected to survive childhood. But today, due to preventive drug treatment, …
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 … the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … that slows down the blood clotting process. … Genetic Disorders …
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. … bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, …
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) … the blood of a chemical known as phenylalanine. … Genetic Disorders …