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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira … Carlos Ferreira, M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome … bones … Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare …
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 … skills in the care and clinical research of patients with metabolic disorders. The residency program includes many …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … forms of neurofibromatosis. … Overview … List of Genetic Disorders … Featured Content … Genetic Disorders … A list of genetic, orphan and rare diseases under …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … An electronic catalog of human genes and genetic disorders, developed by the National Center for Biotechnology … … About Trimethylaminuria … Trimethylaminuria is a metabolic condition in which an individual is not able to …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… is a rare, congenital eye movement disorder. … Genetic Disorders …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic disorders. The clinical research studies are paralleled by … enzymopathies belong to the organic acidemia category of metabolic disease, and represent a group of collectively …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… disease. Mitochondrial diseases are a group of disorders caused by problems with the cell’s ability to … not able to provide a "first time" diagnosis or regular metabolic care. … Once you contact our team members, you will … studies such as a DEXA or MRI scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a … common form of disproportionate short stature. … Genetic Disorders …