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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.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the … … Soo: What was your path to becoming a clinician and a researcher? Ferreira: Initially, I wanted to be a … M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome Research Institute …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… unravel the many mysteries of genomics, they require more and more sophisticated technologies to diagnose, monitor and treat genetic conditions. Artificial intelligence tools , … and senior clinician in the NHGRI Medical Genetics Branch, wants to know if we can find a way to use these tools …
Event
The purpose of this semi-annual lecture series is to bring distinguished researchers whose work sits at the interaction of genomics and the social and behavioral sciences to speak to the NIH community.
… The Social and Behavioral Research Branch (SBRB) Seminar Series is a semi-annual lecture. Its … researchers whose work sits at the interaction of genomics and the social and behavioral sciences to speak to the NIH …
Event
A virtual lecture series throughout 2021 and 2022, featuring trailblazers in science communication, that aims to demonstrate the various approaches for communicating about genomics as well as the unique challenges and opportunities each medium can bring.
… (NHGRI) will host a virtual lecture series throughout 2021 and 2022 that features trailblazers in science … including radio, podcasting, writing, speaking, publishing and everything in-between. The series aims to demonstrate the … about genomics as well as the unique challenges and opportunities each medium can bring. These lectures will …
Staff
Julia Fekecs is a visual information specialist in NHGRI’s Office of Communications.
… is a visual information specialist in NHGRI’s Office of Communications. She has been with the institute since 2005. She creates figures and illustrations for manuscripts, creates graphics for … is a visual information specialist in NHGRI’s Office of Communications. … Julia Fekecs is a visual information …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… M.D., Ph.D. … Shortly before the holidays, Congress passed and the President signed a federal budget for Fiscal Year … the answers to these and other related questions, NHGRI’s Communications and Public Liaison Branch recently developed a polygenic risk …
Staff
Jacqueline Cohen, M.P.H. is the 2024-2026 ASHG-NHGRI Genomics Communications Fellow
… Cohen, M.P.H. is the 2024-2026 ASHG-NHGRI Genomics Communications Fellow. She supports the NHGRI Office of Communications, developing educational and media products such as fact sheets and feature stories. … in rural counties. Jacqueline received her M.P.H. in Public Health Genetics from the University of Pittsburgh and …
The Genomics Landscape
In the September 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how social media provides NHGRI staff with a space to talk about their work, make genomics topics easy to understand, and show how genomics can positively affect people.
… to the array of updates about the many happenings at NHGRI and in genomics, I would like to draw your attention to … for conveying information about genomics to the general public, while also staying connected with colleagues and … are due on November 18. …  In July, the NHGRI Communications and Public Liaison Branch participated in the …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). … Staff … The Newborn Sequencing In Genomic Medicine and Public Health (NSIGHT) program explores the implications, …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… by impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviors or severely limited activities and interests. … Autism - or more precisely the autism …