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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 … rare risk and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for …

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.

… research will focus on understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … (NHGRI), part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome …

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.

… affected patients and also provides insights into more common disorders. … They are underlining this important … that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … connection between the rare Gaucher disease and the more common Parkinson's disease. While patients with Gaucher …

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.

… institute and the field of genomics. … The International Common Disease Alliance (ICDA) was recently established as a … shares many goals with the ICDA. Accelerating progress in common disease genetics discovery and translation is … our common goals of understanding and treating common diseases. … Launched in 2012, the NHGRI History 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 … nature of research since the original publication of the Common Rule in 1991. … Compliance with the new rules will … studies after the effective date. The changes to the Common Rule aim to improve informed consent practices with …

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 … by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … like the plague, is an ancient disease. It is the most common periodic fever syndrome, and symptoms of FMF include …

For Patients and Families

Rare Diseases FAQ

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.

… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans. … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …

Educational Resources

Complex Disease

A complex disease is caused by the interaction of multiple genes and environmental factors.

… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include heart …

Clinical Research

The Undiagnosed Diseases Program

The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.

… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that focuses on the most puzzling … diagnosis To advance medical knowledge about rare and common diseases For information, view our Frequently Asked …

15 Ways Genomics Influences Our World

Rare Genetic Diseases

Genomics is ending diagnostic odysseys for patients with rare diseases.

… is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to … the surprising discovery that PRNP mutations are more common than we previously thought, and these mutations don't …