Search Results
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … Director) and I answered questions about bioethics and genomics research on Twitter as part of #AskDrGenome . Meanwhile, the NHGRI History of Genomics Program continues to showcase oral history …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of … the interpretation and return of results. He co-directs a Clinical Laboratory Improvement Ammendments (CLIA)-certified …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases. For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders … Diseases Program, Dr. Tifft coordinates the selection and clinical evaluation of children whose diagnoses have long …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. … and a section chief since 2000. Her research includes both clinical and basic research aspects of Gaucher disease and …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH). Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the clinical and genetic features of people who may have the rare …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… The Partnership for Community Outreach and Engagement in Genomics brings together community liaisons and health … representing diverse populations to engage communities on genomics, inform and share perspectives, and impact the focus … The Partnership for Community Outreach and Engagement in Genomics was established in 2014. The partnership brings …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Dr. William Gahl, clinical director at the National Human Genome Research … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As … established in 2014. The UDN has created a network of clinical centers that receives patient applications, reviews …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … who continue to make valuable contributions in the area of genomics and related fields. Our well-deserving recipients … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs … Cancer Institute. The goal of ClinGen is to bring together clinical and research experts to develop standard processes … developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology to …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, … for the implementation of genomic sequence data into clinical care, as well as research that combines … eMERGE & CSER: The Convergence of Genomics and Medicine …