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White House highlights Rare Disease Project at Precision Medicine Summit

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University of Utah Health

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image: At a White House Precision Medicine Initiative Summit, Matt Might, Ph.D., associate professor of computer science at the University of Utah, announced formation of a coalition of scientists from the University of Utah College of Pharmacy, School of Medicine, University of Utah spin-off Recursion Pharmaceuticals, Boston Children¹s Hospital and Harvard School of Medicine who will collaborate to find treatments for patients with rare diseases. His son, 8-year-old Bertrard Might has a rare genetic disorder. Although by definition rare diseases affect fewer than 1 in 200,000 people, as a group they afflict 10 percent of the US Population. view more 

Credit: Heather Nan

(Washington D.C.) - A University of Utah-led initiative to help people with rare and untreatable diseases was highlighted by the White House at the Precision Medicine Initiative Summit today.

Spearheaded by a University of Utah computer scientist whose son has a rare disease, the Patient Empowered Precision Medicine Alliance (PEPMA) joins researchers from the University of Utah College of Pharmacy, School of Medicine, School of Computing and University of Utah spin-out biotech company Recursion Pharmaceuticals with researchers from Boston's Children's Hospital, Harvard Medical School and Pairnomix LLC. The project will lay the groundwork for a pipeline that rapidly matches patients with the right drugs for their condition, at a relatively low cost.

Launched in January 2015, the White House Precision Medicine Initiative is ushering in a new area of medicine that promises to deliver the right treatment to the right person at the right time. The need is particularly pressing for patients struggling with intractable diseases that have no treatment or cure.

"The power of precision medicine is not simply to apply topline technologies to previously unsolvable medical problems, but to create the most cost-effective solutions for our patient populations who disproportionately need health care resources," says Dean Li, M.D., Ph.D., associate dean for research at University of Utah Health Sciences, and co-founder and chief scientific officer for Recursion.

Patients with rare diseases, often caused by genetic mutations, bear a disproportionately heavy health burden. Currently, there are no drugs available to treat 95 percent of patients with such diseases. Though by definition each rare disease strikes no more than 1 in 200,000 people, as a group these conditions affect 10 percent of the U.S. population.

The alliance will leverage University-derived technologies that bypass a need to develop new drugs - which can take 10 years and $1 billion dollars - by determining whether existing drugs can be repurposed to treat rare conditions. The College of Pharmacy team has developed algorithms that predict whether drugs can reverse a patient's disease characteristics caused by changes in gene expression. Recursion examines disease from a different perspective by using machine-learning tools to track changes in thousands of microscopic characteristics in cells as they are treated with drugs.

In collaboration, the academic and private sector partners that make up the alliance will build a pipeline from patient to treatment. During a 12-month pilot phase, the pipeline will be optimized for efficiency and agility by using it to identify drugs to treat a handful of a variety of types of genetic diseases. The goal is to start screening patients upon demand in the second year.

"For any patient that comes to us with a rare disease, our goal is to be able to match them to the right treatment, or give an informed opinion of what their next step might be," says Andrea Bild, Ph.D., associate professor in the College of Pharmacy.

Lead investigator and associate professor in the School of Computing Matt Might, Ph.D., knows full well what these efforts could mean to patients and families living with rare diseases. His 8-year-old son has a rare genetic disorder, NGLY1 deficiency, that is currently untreatable. Bertrard Might spends much of his day in a wheelchair, has developmental delay and seizures among other symptoms. At the White House, Might explained to the PMI Summit audience that ever since his son showed the first signs of his condition, he has been devoted to harnessing the best minds and technologies to streamline discovery of treatments for rare conditions. His goal is to help not only his son but also others who, like him, may not have the luxury of time to wait for the slow pace of traditional science to catch up with them.

"There is a need for government, academics, patients, and physicians to collaborate to make precision medicine work," says Might. "I honestly think that the more we connect, the closer we are to finding a cure."


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