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News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… Prabarna Ganguly, Ph.D. … The Mendelian Genomics Research Consortium will include five centers and a data coordination site. … The National … significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs. 
… lead intramural center’s efforts in driving innovation in genomics research. … The National Human Genome Research … genomics protocols to meet their research needs. “For more than 25 years, NISC has played an integral role in … NHGRI’s Intramural Research Program. “Dr. Thomas’ vision for NISC will further expand the NIH’s DNA sequencing …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… obvious cause - affects 1-2% of all children, accounting for about 40% of all hypertension diagnoses in children, and … all with small effects) or is more consistent with rare Mendelian diseases that are more striking in childhood … Distinguished Scholar.  …   The CCDGS is a translational genomics research lab using human genetics and genomics to …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… part of a two-year initiative, called the Clinical Center Genomics Opportunity (CCGO), which is encouraging NIH … Genome Research Institute (NHGRI), the NIH Deputy Director for Intramural Research, and the NIH Clinical Center. Using … explores the 1-2 percent of the genome that codes for proteins, the most likely place to find DNA differences …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… researchers generally believe that human genome editing for reproductive purposes should not be attempted at this … Summit on Human Gene Editing  in Washington, DC. For more information on this summit, see  What's happening … the approaches, objectives and global society. Brief Funct Genomics, 16(1), 46-56. doi:10.1093/bfgp/elv053 [8] Park, A. …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… Dr. Mullikin first began to apply these skills to the genomics field in 1997, just as the Human Genome Project was … greatly sped up the process of SNP discovery, first for The SNP Consortium Project and later in the International … developing data analysis methods specifically tailored for each class of project. … Applied math and physics, signal …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… The Center for Research on Genomics and Global Health (CRGGH) facilitates a global … into the roles of culture, lifestyle, genetics, and genomics in disease etiology, differential susceptibility to … primary objectives: Develop genomic resources for the conduct of primary research into the etiology of …
News Release
New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome.
… human genome is becoming obsolete. The funds are necessary for making advances in DNA sequencing technology and … methods possible. As a result, NHGRI will fund two centers as a part of a new Human Genome Reference Program … improvements will serve the growing basic and clinical genomics research communities by helping them interpret both …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… Benin in Nigeria before immigrating to the United States for further studies. He started his education in the United … to the NIH in 2008 to found the trans-institute Center for Research on Genomics and Global Health, with the mission of advancing …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… Ganguly, Ph.D. … NIH-funded research highlights need for diversity in study populations, creates a comprehensive … Such an effort is vital because a vast majority of human genomics research use data based mostly on populations of … was formed in 2008, comprising researchers at NHGRI and centers across the United States. The paper in Nature on the …