HudsonAlpha sequencing 500 trio exomes to elucidate rare genetic disorders under CSER grant

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Genome Web Clinical Sequencing News

The HudsonAlpha Institute for Biotechnology has embarked on a research project to analyze the genomes of 500 children with unexplained genetic disorders and their parents in order to provide at least some families with a molecular diagnosis.

The project, funded with up to $7.6 million over four years, is one of four that received a total of up to $27 million this summer under the National Human Genome Research Institute’s Clinical Sequencing Exploratory Research, or CSER, program. In late 2011, NHGRI awarded the first six CSER grants (CSN 12/7/2011).

The study, a collaboration between researchers at HudsonAlpha, based in Huntsville, Ala.; the University of Alabama at Birmingham Medical School; and the University of Louisville; is recruiting about 500 children and their families from North Alabama Children’s Specialists, a clinic in Huntsville that is affiliated with UAB.

These children – many of whom are adults now – each suffer from a rare congenital disorder, but the genetic cause of their problem is unknown. Most of them show signs of intellectual delay, and many have physical abnormalities as well, according to Rick Myers, HudsonAlpha’s president and director and the principal investigator on the project.

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