Search Results
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes … them. This knowledge may help guide the development of new therapies and provide more precise ways to assess how …
Infographic
An infographic that explains why we need a new human pangenome reference.
… has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only … genome missing because of gaps in the sequence. Recently, new types of DNA sequencing technologies have helped … those gaps, especially in areas that were repetitive and harder to read. The new human pangenome reference is more …
Health
The Method for Introducing a New Competency: Genomics (MINC) Toolkit assists those interested in integrating genomics into their practice.
… the program improved their nurses’ knowledge of genomics and patient care. Pamela Edwards, EdD, MSN, RN-BC, CNE, … importance of finding the right person to lead the program and describes key successes. … The Method for Introducing a New Competency: Genomics (MINC) Toolkit assists those …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Health (NIH) has awarded 16 four-year grants to academic and medical centers nationwide to begin the second phase of … to the medical community. "The UDN is pioneering a new personalized medicine model for helping those patients … sites are: University of Washington (Seattle). Principal Investigators: Gail Jarvik, M.D., Ph.D., and Katrina Dipple, …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… in the Genome Informatics Section, Computational and Statistical Genomics Branch at the National Human Genome … has been used to assemble both the Drosophila melanogaster and human genomes. In parallel, Dr. Koren worked under the … where he developed several tools for metagenome assembly and analysis. In 2010, Dr. Koren joined the National …
Event
On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… of the DMS Policy to ELSI Research Data sharing templates and resources Q&A from webinar participants For questions … please email elsi@mail.nih.gov . … NIH Data Sharing and Management Policy NHGRI’s Data Sharing Policies and … hosts an informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy , on …
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… NHGRI Communications and Public Liaison Branch … Investigators with The Cancer Genome Atlas (TCGA) Research Network have identified new potential therapeutic targets for a major form of bladder …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… to serve as the Acting Science Advisor to President Biden and Acting Co-Chair of the President’s Council of Advisors on … ” for staying connected with me and NHGRI. The new website provides a convenient way to navigate to specific … protein works against multiple coronavirus variants in early study NIH-funded study suggests COVID-19 increases risk …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… the implications of genomics for their health care and evaluate the relevant public policy issues,according to … citizenry, the American Society of HumanGenetics (ASHG) and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship. Every year, one …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with the National Human Genome Research Institute (NHGRI), as their new president-elect. In 2019, Dr. Biesecker will become …