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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 … 8% of the human genome sequence, adding over 100 million new bases. …
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. … that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell anemia also run in families. For example, if …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… Rapid advances in human genetics/genomics research and genomic medicine are increasingly relevant to everyday … have been paralleled by innovations in science education and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals who wish to transition to …
Event
A series focusing on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic Innovator Award Program with an established researcher whose own contributions have paved the way for the specific research area.
… Beginning September 2022, NHGRI will host a new seminar series based on its Genomic Innovator Award Program, which supports innovative work by early-career genomics investigators who are part of consortia … endeavors with great potential to accelerate research and have the chance to ask questions of some of the brightest …
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 … tetrahydrofolate-dependent purine biosynthetic enzymes as new anticancer targets. He then acquired expertise in …
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 … of Human Genetics (ASHG) over $7 million to support the new Genomics and Public Service Fellowship Program. The … fellowships between the two organizations and will help early-stage professionals interested in policy, …
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 … Other awards include selection as an Outstanding New Investigator from the American Society of Gene and Cell …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… A new phase of the IGNITE Network will conduct clinical trials … fund clinical trials to assess the benefits, applicability and efficacy of applying genomic medicine interventions to … and the Icahn School of Medicine at Mount Sinai, New York City; will carry out the clinical trials as part of …
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 briefings also provide a forum where …
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 …