Search Results
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and families to better understand of how genes can cause or influence diseases and develop new … between infection, immunity and clinical decline in individuals with mitochondrial disease. … Clinical studies …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… Dr. Mullikin's educational background is in electrical engineering, having earned a B.S. and an M.S. … recognition, having earned a Ph.D. from Delft University of Technology, Netherlands. Dr. Mullikin first began to apply … Center in 1997. Over five years there, Dr. Mullikin's research group improved the restriction digest fragment …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… counseling experience need(s) to be an integral part of the research team including being involved in research design, implementation, and analyses, not just …
Staff
Dr. Rene Sterling is a program director in NHGRI's Division of Genomics and Society.
… (NHGRI) in June 2020 as a program director in the Division of Genomics and Society. She oversees a portfolio of research … she completed a post-doctoral fellowship at one of NHGRI’s Centers for Excellence in ELSI Research (CEER), where she focused on …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… the National Heart, Lung, and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian … and usually inherited, and typically caused by a mutation in a single gene. So far, researchers have identified the …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… group that was so popular it landed on the front page of Reddit, reaching a total of 10.5 million people worldwide! … Diseases Dr. Doudna, along with program directors for the Centers of Excellence in Genomic Science (CEGS) Research Program in …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… “The promise of genomics cannot be fully achieved without successfully … includes people from groups currently underrepresented in the genomics enterprise.” – Eric Green, M.D., Ph.D., NHGRI Director … The National Human Genome Research Institute (NHGRI) Division of Intramural Research is …
Research at NHGRI
NHGRI researchers are creating foundational tools and methods to expand genomics research, ultimately leading to medical breakthroughs.
… Genetic diseases affect millions of Americans every day, and research is key to improving our ability to diagnose and treat these diseases. At the National Human Genome Research Institute, our researchers are creating foundational …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… Amy Bentley … As the birthplace of modern humans, Africa is home to the greatest genomic variation in the world. An important limitation to the field of … of many researchers, including the TrypanoGEN Research Group and the H3Africa Consortium. Notably, African …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… Dr. Gerard Bouffard began his career in the biological sciences with an interest in Veterinary … laude with a B.S. in animal sciences from the University of Vermont, his focus shifted towards research in molecular biology. Several years as a laboratory …