Search Results
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… adenosine deaminase 2 (ADA2) in patients with early-onset stroke, vasculopathy, and fever. The underlying condition is … MS, Boehm M, Kastner DL, Aksentijevich I. Early-onset stroke and vasculopathy associated with mutations in ADA2. N …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… difficult for blood to flow leading to heart attack and stroke. The first step in treatment for an individual who has …
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 …
File
… (NIMHD)National Institute of Neurological Disorders and Stroke (NINDS) •Vary in intent, scope and stability•Twenty …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… of the National Institute of Neurological Diseases and Stroke, co-chair the UDN working group. The Undiagnosed …
Fact Sheets
​Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN​. ​
… ( National Institute of Neurological Disorders and Stroke ) sobre la enfermedad de Parkinson. …
Research Funding
Bioinformatics and computational biology are cross-cutting areas broadly relevant and fundamental across the entire spectrum of genomics.
Office of Genomic Data Science
NHGRI is committed to increasing the availability of educational and research opportunities in computational genomics and data science (CGDS).