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Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… 2 - Wednesday, April 17, 2024 9:00 AM – Recap of Day 1: Major Takeaways Heather Colley, NHGRI Erin Ramos, NHGRI Robb … from the scientific community to better understand the major challenges, gaps and opportunities for developing solutions to this complex issue. … Hybrid: Virtual and In-Person … MD … …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… trials.   IDS research efforts currently focus in four major areas: the genetic analysis of monogenic disorders of inflammation, the study of genetically complex inflammatory diseases, investigations into the … Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… details about an important metabolic pathway that plays a major role in several common diseases. Together, their … ). Stroke is the fourth leading cause of death and a major cause of adult disability in this country, yet its … participants in the FHS, a remarkable result given the complex nature of methionine metabolism and its impact on …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… with "new" environments in the evolution of common complex traits. … View a list of publications led by or in … allow novel inquiries into the evolutionary context of complex human diseases. For example, CRGGH investigators … serum (e.g., adipokines) or other biological fluids. The major methods include commercially available ELISA kits and …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… artifacts from the Human Genome Project and other major genomics efforts. To receive more information about … 23, 2017 … Scholarly descriptions and analyses of the major genomics programs and other NHGRI endeavors strive to …
Virtual Exhibit
The Human Genome Project changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2023.
… Resolved Epigenomic Profiling of Single Cells in Complex Tissues" Jones et al. – "High-Throughput CRISPRi and … Genetics to Cancers, Joan Bailey-Wilson Retires After Major Advances in Hematology, David Bodine Retires with an … Family of Unusual Immunoglobulin Genes in an Invertebrate Histocompatibility Complex" 60 ‘One-Stop-Shop’ to Stay …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… questions about our evolutionary history, health, and complex issues surrounding individual and group identity … Director Eric Green, M.D., Ph.D. , that will include other major NIH leaders: Diana Bianchi, M.D. , Eunice Kennedy … will also include some fun activities alongside the major presentations. There will be a video and a vote about …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… sequence contains the total numbers of each of the three major types of genomic variants indicated on the left. … of the indicated contributions from each of the three major types of genomic variants. These same general numbers …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… and ethnic categories in biomedical research is part of a complex and sometimes contentious conversation about how … data and its appropriate use in biomedical research. Major NIH efforts are also underway to enhance representation …