Search Results
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… its link with a myriad of diseases , including hemophilia, chronic granulomatous disease and Duchenne muscular …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to identify the genes underlying cardiovascular and other chronic diseases, such as osteoporosis and diabetes. More …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Center hosts a wide range of studies from rare diseases to chronic health conditions, as well as studies for healthy …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… ties to non-inflammatory disorders of the cervix and chronic periodontitis, a gum disease. In another study, John …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… stroke syndromes, pancreatic dysfunction, diabetes, chronic kidney disease, osteoporosis, obesity and retinal … the wider study of related medical conditions, especially chronic kidney failure caused by tubulointerstitial disease. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… clinical testing or consultations. Possible risks include: Pain, bruising, or risk of infection as a result of the blood …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… symptoms, they might experience shortness of breath, chest pain and fainting. While previous studies have demonstrated …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.