Search Results
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. … (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart disease, … Exploring the Genome's Role in 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.​ … 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.
… To productively use a long, blank (and boring) hallway near … at the National Center for Biotechnology Information to develop a graphical display illustrating the scale of … second of two data science, web-based workshops  to be held on Nov. 19, 2019 at 12 p.m. ET. To stay informed …
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 subjects research in the United States to address changes in the nature of research since the …
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.
… 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 … National Institutes of Health, determined that specific genomic variants that cause a disease called familial …
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 … a large number of patient groups have formed after the genomic cause has been identified for a specific rare …
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. … benefits of treatments, especially important. In response to this emerging need, researchers at the National Human … asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about …
News Release
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 …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… GARD provides immediate, virtually round-the-clock access to experienced information specialists who can furnish … genetic and rare diseases. So far, GARD has responded to over many inquiries on rare and genetic diseases. Requests … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …