Rare99X Clinical Exome Research Data Challenge at Washington University St. Louis
Science researchers at Washington University School of Medicine in St. Louis are offering to sequence the DNA of 99 patients with rare genetic diseases in order to find the genetic alterations that made them ill. The new effort, known as the Rare99X Clinical Exome Challenge, will allow patients’ DNA to be decoded at the university’s Genomics and Pathology Services (GPS) at no cost to the patients or advocacy groups who represent them.
The Rare99X Clinical Exome Challenge is a medically significant project because altogether, about 25 million Americans are affected by an estimated 7,000 rare diseases. Diseases range from Huntington’s disease, a neurodegenerative disorder that takes hold in adults, to Neimann-Pick, a metabolic disorder which can affect infants.
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Rare Disease Day, on February 29th, GPS started accepting proposals for the sequencing project from patient advocacy groups. The final choices for the projects will be made this summer. GPS leaders will receive help from a panel of genetics experts in looking over the proposals and deciding which projects will be likely to advance the quality of care of patients with rare diseases.
The Rare 99X Clinical Exome Challenge has only been possible recently because DNA sequencing has become less expensive, quicker and more accurate due to improvements in technology. Science researchers can now use this technology to discover the genetic error or errors that induced illness in patients with rare diseases.
Genetic variations in the small part of the DNA that codes for proteins, altogether known as the exome, are thought to cause many of the rare diseases in the patients science researchers at Washington University School of Medicine will sequence DNA for. The exome is the portion of DNA that will be decoded.
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“The genomics revolution provides many of the tools that may unlock the secrets of rare diseases,” says Jimmy Lin, PhD, science research instructor in pathology and immunology. “We are excited to form partnerships with patient advocacy groups to apply these technologies to advance clinical understanding of these diseases.”
Lin founded the Rare Genomics Institute, a nonprofit whose mission is to make gene decoding and other advanced programs available to patients with rare diseases. The institute is getting ready for the Rare99X Clinical Exome Challenge by creating online training sessions and other activities to prepare advocacy groups for making their proposals.
With the Rare99X Clinical Exome Challenge underway, advocacy groups, science researchers and GPS leaders are working hard to find the right choices for the projects. There are a significant number of Americans affected by rare diseases, and hopefully the work done in the Rare99X Clinical Exome Challenge will improve medical knowledge and treatment of these diseases.
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Sources: Bioscience Technology