Search Results
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 …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
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 …
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 …
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 …
Research Funding
Bioinformatics and computational biology are cross-cutting areas broadly relevant and fundamental across the entire spectrum of genomics.
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… failure, breast cancer, liver disease, autoimmune disease, stroke, birth defects and neurodevelopmental disorders. They …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… The National Institute of Neurological Disorders and Stroke (NINDS) is funding Dr. Thompson's grant. The grant …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced the next phase of a …