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Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… to form germinal centers, the site of generation of high affinity antibodies and long-lived humoral immunity, and … Disease Research Branch. … Pamela Schwartzberg, white blood cells, immune system, infection, immunization … Dr. …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… of the same gene in patients with a similar type of blood vessel inflammation. … The NIH group first encountered … only to a diagnosis, but to fundamental new insights into blood vessel disease. In their study, which appears in the … of DADA2 has treatment implications. As an alternative to high doses of steroids, which produce profound side effects, …
News Release
CRGGH researchers Amy Bentley and Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides.
… on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density … on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density … on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing … DNA biorepositories, electronic medical record (EMR), high-throughput genetic research, genomic medicine … Dr. Robb …
Statement
NHGRI Director, Eric Green, M.D, Ph.D., provides remarks for the May 10, 2023 media briefing about the new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… Health. Today, we announce a major advance in generating a high-quality human pangenome reference . This pangenome … for advancing the field in an equitable way. Having a high-quality human pangenome reference that increasingly … remarks for the May 10, 2023 media briefing about the new high-quality collection of reference human genome sequences …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… National Institute on Aging; the National Heart, Lung and Blood Institute; and the National Institute on Minority … … Type 2 diabetes, diabetes, genetics and diabetes, blood sugar testing, genetic risk, Francis Collins research … …
The Genomics Landscape
In June 1, 2023, edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the NHGRI-funded Human Pangenome Reference Consortium releasing a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference.
… Human Pangenome Reference Consortium released a high-quality collection of human genome reference sequences, … Genomes Project had their genomes sequenced with very high accuracy. The current human pangenome reference consists … Human Pangenome Reference Consortium releasing a high-quality collection of human genome reference sequences, …
Funding Opportunities
The NHGRI Genomic Innovator Awards support highly innovative work by early career genomics investigators who are part of consortia or other team-science efforts. All awardees work on critical, emerging topics in genomics. These awards recognize creative endeavors with great potential to accelerate future genomics research.
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Agency for Health (called ARPA-H). ARPA-H aims to conduct high-impact biomedical and health research with a mission “to … to the COVID-19 pandemic, NISC has continuously produced high-quality DNA sequence since its inception — albeit with a … health. Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… are increasingly able to detect cancers by testing just a blood sample? Or that we are moving toward treating cancers … and experienced them himself. Lukas was diagnosed with a blood cancer called acute lymphoblastic leukemia (or ALL) in … sequences of his normal cells and those of his cancerous blood cells. In his cancer's genome, they found mutations in …