Search Results
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… porphyrias include the following types: Also called congenital porphyria. This is a rare disorder that mainly …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Severe curvature of the spine (scoliosis). Enlargement or malformation of other bones in the skeletal system. Symptoms …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which … G, ten Bosch JW, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with …
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.
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… genes in NF1-associated plexiform neurofibromas (PNs), congenital tumors affecting up to 50 percent of people with …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… tube defects (NTDs) and other birth defects. NTDs and congenital heart defects are some of the most common birth …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Brown LH, Merideth M , Owen CM, et al. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.