NEW YORK (GenomeWeb News) – Ten institutes at the National Institutes of Health plan to provide $17.5 million in funding next year to support a network of as many as 14 consortia that will pursue clinical research projects focused on rare diseases.
These collaborative, multi-site Rare Diseases Clinical Research Consortia (RDCRC) each will focus on at least three rare diseases, disorders, conditions, or syndromes, and they will engage in collaborative research projects, train new investigators, conduct pilot and proof-of-concept clinical projects, and share information about these diseases.
Each of these RDCRC's will involve multiple institutions and partnering organizations, such as patient advocacy groups, and they will operate together as the Rare Diseases Clinical Research Network (RDCRN).
A major aim for these centers will be to investigate potential biomarkers for disease risk and severity and to measure clinical outcomes that could be applicable to clinical trials.
The three diseases and disorders the RDCRCs focus on should be related, and may be defined on the basis of genetic, genomic, or acquired differences, pathogenesis, or molecular, biochemical, cellular, and other features. For example, these consortia may seek to investigate disease-causing variants in the same gene that lead to different phenotypes or variants in diverse genes that lead to overlapping phenotypes.
Clinical data management, including data collection, mining, and sharing, will be addressed through the Data Management and Coordinating Center component of the RDCRN, NIH said in the funding announcement.
Although rare diseases are defined as conditions that afflict less than 200,000 Americans, there are an estimated 7,000 of these disorders and they affect around 25 million people in this country, according to the NIH.
The RDCRN is supported by 10 NIH institutes and includes the National Cancer Institute; the National Heart, Lung, and Blood Institute; the National Institute of Allergy and Infectious Diseases; the National Institute of Arthritis and Musculoskeletal and Skin Diseases; and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, among others.