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The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… deficiency in the liver. Hemochromatosis, an iron overload disorder, can also predispose individuals to PCT. Twenty … types: Also called congenital porphyria. This is a rare disorder that mainly affects the skin. It results from low … inherited in an autosomal recessive pattern. An uncommon disorder that mainly affects the skin. It results from …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… arched foot or gait disturbances. Other symptoms of the disorder may include foot-bone abnormalities such as high … investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… loss are variable. … Retinitis pigmentosa is an inherited disorder, and therefore not caused by injury, infection or … factors. People suffering from RP are born with the disorder already programmed into their cells. Doctors can see … to their progressive degeneration. In most cases, the disorder is linked to a recessive gene, a gene that must be …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also … gene is passed down from one generation to the next. The disorder may begin earlier in life and signs and symptoms …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… cadre of talented researchers working across the entire spectrum of genomics research,” Dr. Green said. “With …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… in their 40's to 50's, and 85 percent of men with the disorder have a heart attack by age 60. Women who have …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.