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Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning … tone (hypotonia) in infancy. An individual with Down syndrome has three copies of chromosome 21 rather than two; … in which an individual lacks a chromosome, is Turner syndrome. In Turner syndrome, a female is born with only one …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… deletion) in a patient with autism, OCD, and overgrowth syndrome . Am J Med Genet A . 2107 Jun; 173(6):1656-1662. …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… disease in humans, including: Acquired immunodeficiency syndrome (AIDS) Viral agent: Human immunodeficiency virus …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the … Males with more than one X chromosome have Klinefelter syndrome, which is a condition characterized by tall stature and, often, impaired fertility. Another syndrome caused by imbalance in the number of sex chromosomes …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… loci ( HLADQA1 and PLCG2 ) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative … have been reported for the common form of the nephrotic syndrome, which is the second leading cause of kidney disease … (FSGS) - PMID 24676636; showing that subjects with Alport syndrome with the characteristic mutations in COL4A3/COL4A4 …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… characterize the rate of mutations that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease in which the body's …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… Neck Surgery  Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program Fizza Gulamali-Majid, … Wendy Introne, M.D. Alkaptonuria, Chediak-Higashi syndrome Eirini Manoli, M.D., MPH Organic acidemias, Moebius syndrome Melissa Merideth, M.D., MPH Gynecologic aspects of …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… researchers identify an altered gene that causes Pendred Syndrome, a inherited form of deafness. 1998 March 1998: Vice … chromosome 21, already known to be involved with Down syndrome, Alzheimer's disease, Usher syndrome and Lou … the gene that causes the premature aging disorder progeria . The findings were released online in the journal …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… disease, as well as less common conditions such as Marfan syndrome ( Learning About Marfan Syndrome ) and neurofibromatosis ( Learning About …