Search Results
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… communication of genomic information, population genomic screening implementation, and utilization of … with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis . Genet Med … Sturm AC. A new agenda for implementing population genomic screening . Public Health Genomics . 2024 Jun 22. doi: …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… of adult participants in a population-based genomic screening program Board No. PB2180 Karen Wain Convention … Center, South Exhibit Hall 3:00 p.m. — 4:45 p.m. Prenatal, Perinatal, and Developmental Genetics Phenomic and …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2024.
… Blood Pressure" Riggan et al. – "Patient Experiences with Prenatal Cell-Free DNA Screening in a Safety Net Setting" 26 Knockout Mouse …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… genomic information in everyday life - from non-invasive prenatal genetic testing to the increasing availability of …
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… what set of questions should be asked. Would a plan to add prenatal tissue collection be appropriate? Not at this time. …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… occur in populations thought not to be at high risk. Prenatal testing for Tay-Sachs can be performed around the …
News Release
DNA Day Reddit “Ask Me Anything” prompts rousing discussion.
… there are other ways to address genetic diseases in the prenatal setting, such as IVF [in-vitro fertilization] with … about possible responsible uses for CRISPR in the prenatal setting. For example, in the case of rare, …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… over which genes are inactivated. As a result, targeted screening in a vertebrate is now possible for the first time, … 5-10 percent of zebrafish genes. In order to bias the screening towards genes of biological interest to …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… entitled Genomic Medicine XV: Genomics and Population Screening . The meeting discussed the current state of population genomic screening in the U.S. as well as barriers to and opportunities for expanded population screening. These include impacts on clinical practice and …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… tissues from rhesus macaques and common marmosets across prenatal and postnatal developmental stages. This project …