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News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… tools and analyses that are being used extensively in studies to interpret genome sequences and to understand the consequence of genomic variation," said Elise Feingold, Ph.D., a program director in … resources catalog, Elise Feingold Ph.D., basic science genomic research, Mike Pazin Ph.D., ENCODE mapping centers, …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by researchers … Diverse Groups Underrepresented in Genomic Databases They found significantly fewer studies of …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… cancers. They also study the relationship between genetic variation and cancer progression and pursue the discovery of … or production of tumors-tumorigenesis-can result from genomic alterations that are inherited or alterations that … integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… Genetic Testing, Clinical Genomics, Genomics In Medicine, Genomic Medicine, Johns Hopkins University …
Clinical Research
A study for patients with unexpected genetic results
… The Genomic Services Research Program (GSRP) is a study of people … May 13, 2021: From one genomic diagnosis, researchers discover other treatable … The Genomic Services Research Program (GSRP) … Genomic Services Research Program (GSRP) … The NHGRI Genomic Services Research Program (GSRP) is a study of people …
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA. … polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical studies give us a better understanding of how genes can cause … choose to participate include: Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more … Value of Clinical Studies …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic … Green, M.D., Ph.D. "These results give us important new genomic insights into the development and behavior of an … to secondhand smoke. In addition to the two lung cancer studies, the TCGA Research Network has generated data and …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, Genetic Variation, Gene …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource … in concert to advance knowledge connecting human genomic variation to human health. …