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Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… complications, including severe metabolic instability, stroke of the basal ganglia, pancreatitis, end stage renal … in many common conditions, such as vitamin B12 deficiency, stroke syndromes, pancreatic dysfunction, diabetes, chronic …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… lead to throwing up blood or passing blood in the stool, stroke, and sudden severe pain in the joints or limbs. …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… and the National Institute of Neurological Disorders and Stroke on Parkinson's disease. … What is a genome-wide …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… damage that causes acute chest syndrome, pain episodes, stroke and priapism (painful, prolonged erection). It also …
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
File
… India. B) Grants: 1. Adeoye AM . Renewal Application for Stroke Investigative Research And Education Network (SIREN). … (NIH) and National Institute of Neurological Disorders and Stroke (NINDS) (Grant 1U54HG007479 -01) . 2. Adeyemo WL (PI) … lipids (or a panel of lipids -lowering variants) and stroke risk and type s. The baseline analysis of blood sample …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism National Institute of Neurological Disorders and Stroke National Institute of Mental Health Eunice Kennedy …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… C, Zavialov AV, Stone DL , Chae JJ, et al. Early Onset stroke and vasculopathy associated with mutations in ADA2 . …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… at the National Institute of Neurological Disorders and Stroke (NINDS), the NIH Clinical Center, the Boston …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.