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McIndoe leading $6 2 million innovative research initiative

Credit: Michael Holahan, Augusta University Dr. Richard A. McIndoe, bioinformatics expert and associate director of the Center for Biotechnology and Genomic Medicine at the Medical College of Georgia, is leading a dynamic, new $6.2 million federally funded initiative to support highly innovative research ideas in three areas with tremendous impact on health. This Innovative Science Accelerator, or ISAC, program establishes an expedited but still extensive review process that will enable scientists to pursue some of their most innovative research ideas in diseases of the kidneys; the urinary tract in both sexes as well as the male reproductive organs; and the blood and bone marrow.

Studies describe the results of unprecedented collaboration to diagnose people living with rare diseases

Unprecedented data sharing driving new rare disease diagnoses in Europe

 E-Mail IMAGE: Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect GPAP platform. The platform is located at the CNAG-CRG facilities in the Parc. view more  Credit: Centro Nacional de Análisis Genómico (CNAG-CRG) Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a series of six papers in the European Journal of Human Genetics. In the main publication, an international consortium, known as Solve-RD, explains how the periodic reanalysis of genomic and phenotypic information from people living with a rare disease can boost the chance of diagnosis when combined with data sharing across European borders on a massive scale. Using this new approach, a preliminary reanalysis of data from 8,393 individuals resulted in 255 new diagnoses, some with atypical manifestations of kno

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