Search Results
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … at broadening the applications of genomic information in biomedical research and health care. Some of the successes of this program, which culminated … Opportunity Announcements of the $1,000 Genome Program in early 2004. Concept Papers for Two DNA Sequencing …
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 … medical training at the University of Illinois, training in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of … The Precision Genomics Section research program focuses on understanding …
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 Diseases Program. Dr. Tifft received her B.A. in biology from Revelle College at the University of California at San Diego and her M.S. in genetic counseling from Rutgers University. She received …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… video tag. Credit: Harry Wedel, NHGRI.  Despite the rise in studies using polygenic risk scores, researchers have … to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, … Goddard, Ph.D., director of Translational and Applied Genomics at the Kaiser Permanente Center for Health Research, …
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 … years ago, Emily* discovered that she had fewer platelets in her blood than most people. Platelets, sticky disc-shaped … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the …
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 …
Health
Information about genomics competencies, patient care, and related partnership and outreach activities at NHGRI.
… for health professionals to have a firm understanding of genomics to better serve their patients. These resources provide reliable, up-to-date information about genomics competencies, patient care, and our partnership and outreach activities. … Information about genomics competencies, patient care, and partnership and …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Discuss these questions with your doctor or clinical trial team. … materials to talk with your healthcare provider or a clinical trial team. … be different for each available gene therapies, including clinical trials. However, there are a few general criteria … you are eligible and decide to receive  gene therapy, your clinical team and healthcare providers will make a plan for …
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 National Human Genome … Research Institute at the National Institutes of Health in Bethesda, Maryland. Dr. Sidransky graduated magna cum … of parkinsonism. In collaboration with the NIH Chemical Genomics Center, hundred-thousands of small molecules were …
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 … work he began with the Undiagnosed Diseases Program in 2008. … the honorary Samuel Pruzansky Memorial Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As …