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Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two … of regulatory medicine and clinical trials in Mendelian disorders. … Event …
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
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 …
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.
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 …