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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

NIH genome sequencing program targets the genomic bases of common, rare disease

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

Rare disease research may provide insights into common diseases

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

International Common Disease Alliance aims to accelerate our understanding of common diseases

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

Highlights of Revisions to the Common Rule

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

Genomic variation causing common autoinflammatory disease may increase resilience to bubonic plague

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

Rare Genetic Diseases

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

As genome-editing trials become more common, informed consent is changing

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 …

News Release

Center Researchers Contribute to Unprecedented Look into African Genomic Diversity

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

Dr. Charles Rotimi awarded academy medal for distinguished contributions in biomedical science

Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.

… Director for advances in genetic epidemiology and efforts to enhance the diversity of the human genetics field. … … Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy … Research on Genomics and Global Health, a group that uses genomic tools to understand metabolic disorders such as …