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About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only … human genome missing because of gaps in the sequence. The new human pangenome reference is more comprehensive and incorporates the missing 8% of the human genome sequence, …
For Patients and Families
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. …
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… , was a huge success. Dozens of healthcare professionals and over 700 other participants convened virtually to discuss … fellowships between the two organizations and will help early-stage professionals interested in policy, communications, …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of … and resources, enabling a champion-driven effort in early-stage translation. Prior to the formation of NCATS, in 2004 …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… in genomics over the last three decades – from the early years of the Human Genome Project to today’s efforts in … public policies that advance basic biological research and its applications in medicine and other fields. The … Change and Procedure for Requesting an Extension to Early Stage Investigator (ESI) Status NIH & NHGRI News Statement on …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… fund clinical trials to assess the benefits, applicability and efficacy of applying genomic medicine interventions to … will begin in 2020. The first trial will examine whether early access to patients’ genomic data can help with … Both hypertension and high blood pressure exacerbate end-stage kidney diseases, and all three conditions are more …
Research Training
The Postdoctoral Intramural Research Training Award provides full-time, semi-independent research in NHGRI laboratories.
… that are compatible with their academic interests and career plans. An important aspect of the postdoctoral … Office, which serves as a focal point for training and career development and whose goal is to improve the … (IRTA), Training Programs, Research Laboratories, Research Investigators … The Postdoctoral Intramural Research Training …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… Dr. Liu received his medical degree and residency training in internal medicine in Beijing, … mice, and identified leukemia-initiating cells using these new targets (Hyde et al., Blood 2010). With a clinically … an excellent model for dissecting the genetic control of early hematopoiesis, especially the formation of …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship recipient at Penn State … acidemia. In 2009, he was the recipient of a Presidential Early Career Award for Scientists and Engineers (PECASE), the … stroke of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis and …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… through systemic inflammation, manifesting as painful oral and genital ulcers, as well as vision destroying inflammation … due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction is … single changes in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that …