Search Results
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 …
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 …
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
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 at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… Cores … Adjunct Investigators … Scientist Emeriti … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… Sheena Faherty, Ph.D. … The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA … data, tools and analyses that are being used extensively in studies to interpret genome sequences and to understand … the scope of these efforts to include characterization centers, which will study the biological role that candidate …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and social-behavioral research can provide insights and discoveries that could not …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human …
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 …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… continue to be optimistic that we will find ourselves in very different COVID-19 circumstances by next Thanksgiving. I was remiss in making you aware of an important National Institutes of Health (NIH) milestone … genomics-related ethical, legal, and social implications (ELSI) research went live. ELSIhub , a product of the …