Appistry www.appistry.com providing high performance computing and analytics solutions for next-generation medicine has signed a partnership with NIH’s Undiagnosed Diseases Program (UDP). The plan is to develop a unique genetic-analysis pipeline to diagnose patients and use family genetics to narrow the search for genetic changes that underlie many rare and undiagnosed diseases.
Rare diseases as defined in the Orphan Drug Act affects fewer than 200,000 individuals in the U.S. Of these individuals, just 150 to 170 qualify each year for the UDP which often sees patients with diseases occurring in fewer than 50 people in the world.
“For an individual with an unknown disease, we need to identify which genetic change is the cause,” said William A. Gahl. M.D. PhD, NHGRI Clinical Director and NIH Director for UDP. “Current methods compare an individual’s genome to a generic reference genome, which may differ significantly from the individual’s genome. This creates an unnecessarily large number of possible genetic changes to pursue. Determining which changes are relevant is time consuming and computationally intensive.”
Appistry is going to help build a production-ready pipeline using an NIH UDP method for assembling and comparing genomes within a family capable of identifying changes that may be causing disease in their child.
At first, a customized parental reference will be assembled from the biological parents’ data and used to construct the child’s genome. The resulting trio of genomes will be compared against a standard reference to determine exactly where genetic variations exist. The next process is to determine the sites where the child’s genome differs from the parents. Then a second pass determines the changes in the child’s genome that are truly unique and were not missed during the first pass.
“Our partnership with Appistry is in line with where medicine is headed.” Dr. Gahl said. “You don’t think of a company with expertise in IT and computation as having a direct effect on health. However, this pipeline illustrates how scientific know-how and technological expertise must come together to advance patient care”.