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Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and protective variants … designs to better understand the general principles of genomic architecture underlying common, complex inherited …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The … Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart disease, …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides insights into more common disorders.​ … They are underlining this important … NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… Eric Green, M.D., Ph.D. … To productively use a long, blank (and boring) hallway near … on a new  webpage  dedicated to the life of Lacks and the contributions of HeLa cells to biomedical research that can … work on the human skin microbiome and the use of genomic tools to advance the tracking and control of …
Policy Issues
Revisions to the Common Rule modernize, simplify, and enhance oversight for human subjects research in the United States.
… The final version of the Common Rule was published in the Federal Register on January … Rulemaking (NPRM) on September 8, 2015. The revisions aim to "modernize, simplify, and enhance" oversight for human … or investigate potential public health signals, onset of disease outbreaks, or conditions of public health …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread in Mediterranean … that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… have even one treatment  approved by the FDA . The ability to read the human genome quickly and cheaply has led to … disorder. It is difficult to overstate the relief that genomic testing has brought to many of these patients and … the surprising discovery that  PRNP  mutations are more common than we previously thought, and  these mutations don't …
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.
… … As the birthplace of modern humans, Africa is home to the greatest genomic variation in the world. An important limitation to … scientists and institutions to make meaningful scientific contributions to genomic studies that will benefit Africans …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… work with patients, families and the scientific community to improve the informed consent process. … As public interest … asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about … About NHGRI and NIH … As genome-editing trials become more common, informed consent is changing … NHGRI researchers …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was … Undiagnosed Diseases Network to Target Rare Disorders with Genomic Medicine GenomeWeb 2013 November 9, 2013:  Young …