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Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… delays and malformations of the ribs. … 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 …
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
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… retina (the light-sensitive part of the eye). … Genetic Disorders …
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 …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … causes tremor and/or stiffness in movement … Genetic Disorders …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In … characterized by dramatic, premature aging. … Genetic Disorders …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic … in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and …