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Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research focuses on disorders of sialic acid metabolism and of lysosome-related …
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 … Genetic Disorders …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
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
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 … Genetic Disorders …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… at Carnegie Mellon University investigating how the human brain represents information. More specifically, they looked for semantic information in the brain while subjects perform several cognitive tasks and used … with machine learning techniques to classify different brain states. Previously, Dr. Sudre was part of the Human …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… 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
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 … Genetic Disorders …