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News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The team's discovery coincides with … only recently available, facilitated a molecular diagnosis for patients in their study. The researchers found that …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… During my last year of high school, I decided to pursue a career in medicine because I found it challenging and … to say that I have never regretted making that decision so early, specifically, at the age of 18. The idea to become a … and other institutions nearby, I knew it was a good fit for me, and I was hoping to help patients with rare …
News
NHGRI recognizes leaders in diversity, equity, inclusion and accessibility in the genomics workforce
NHGRI is honoring three individuals for their achievements in enhancing diversity, equity, inclusion and accessibility (DEIA) in the genomics workforce. These individuals are the first recipients of NHGRI’s Outstanding Award for Enhancing DEIA in the Genomics Workforce, which was launched this year and will be awarded annually.
… Recipients of a new NHGRI award include an extramural investigator and two NHGRI staff … future years, NHGRI encourages nominations of extramural early career investigators and established investigators with …
FAQ
Frequently asked questions about the annual Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce.
… have to be a current NHGRI grantee to be nominated for the award? Although you do not have to be a current NHGRI … includes NHGRI listed as a funder of the grant For the Early Stage Investigator award, individuals meeting one or … grant A recipient of an NHGRI Fellowship (F) award or Career Development (K) award … Do you have to be a PI to be …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… More complete and sophisticated collection of genome sequences captures … system, the pangenome graph has many possible routes for a sequence to take, represented by the different colors. … reference genome. To understand these genomic differences, scientists create reference human genome sequences for use as …
NHGRI Director
A selection of NHGRI Director Eric Green's recent interviews, speeches, awards and institute testimony.
… News April 7 2019 NHGRI Research Training and Career Development Annual Meeting St. Louis, Mo. March 23 … 5635 Fishers Lane Rockville, Md. February 1 Prince Mahidol Award Conference Bangkok, Thailand January 31 Thai honours … UK April 15 The U.S. Precision Medicine Initiative: Early Vision, Initial Planning [Centre for Personalized …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… receive the prestigious Health and Human Services (HHS) Career Achievement Award on May 8 and the Ross Prize in Molecular Medicine on … and administrative support,” said Kastner. Until the early 1990s, the medical community had believed that there …
Staff
Dr. Lisa Helbling Chadwick is a program director in Division of Extramural Research at the National Human Genome Research Institute.
… grants, which include the development of novel approaches for mendelian gene discovery and the prioritization or evaluation of candidate variants, … for Mendelian Genomics, Genome Sequencing Program, new and early stage investigators … Dr. Lisa Helbling Chadwick is a …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… … Early in the COVID-19 pandemic, researchers used … researchers from across the globe to analyze the virus and better understand how it causes disease. The speed of … as their vaccine candidate. The spike protein is essential for the virus to attach to the host cell, thereby making it …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… After a decorated career as a geneticist at NHGRI, he looks forward to more art … family with a construction business. I went to college for animal science with the intent of becoming a veterinarian … to relate to people that have grown up either with scientists or clinicians as parents who were more accustomed …