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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.
… body. In Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can … several of the body's systems. Either the liver or the brain can be harmed first, with signs as early as 4 years, or … cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… ganglion cells can provide a visual signal to the brain. The visual scene captured by a camera is transmitted … retina (the light-sensitive part of the eye). … Genetic Disorders …
Research Funding
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.
… at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… environmental factors that influence the development of brain and behavior. A focus of his work was the most common … The program focused on one of the most common and heritable childhood mental illnesses, attention deficit … ] Shaw P, Gogtay N, Rapoport JL. Childhood psychiatric disorders as anomalies in neurodevelopmental trajectories . …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… reach other parts of the body, such as the liver, lungs or brain. In such cases, the disease is called metastatic … most common type of cancer in the United States. … Genetic Disorders …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… recurrent inflammation of the membrane that surrounds the brain and spinal chord (meningitis), headaches and … painful, swollen joints, and ankle rash. … Genetic Disorders …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. A … include chest and abdominal pain, emotional and mental disorders, seizures and muscle weakness. These symptoms often … vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently. The acute …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a … forms of these diseases, as well as other neurological disorders. Because carpal tunnel syndrome affects the hands … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man  …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… person who has WAGR syndrome depend on the combination of disorders that are present. Wilms' tumor: About one half of … include: Developmental, behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, and depression. Early-onset overweight (obesity) …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… that affects the muscles and other body systems. … Genetic Disorders …