White House Highlights University of Utah-led Project to Help Patients with Rare, Untreatable Diseases at Precision Medicine Summit

White House Highlights University of Utah-led Project to Help Patients with Rare, Untreatable Diseases at Precision Medicine Summit

Feb 25, 2016 4:00 AM

(Washington D.C.) - On the eve of a visit by Vice President Joe Biden to the Huntsman Cancer Institute at the University of Utah to discuss the national "moonshot" initiative with cancer experts, University of Utah experts headed to the White House to help shape the Precision Medicine Initiative.

Today at the Precision Medicine Initiative summit, the White House highlighted a University of Utah-led initiative to help people with rare and untreatable diseases.

Spearheaded by a U 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 President Obama and 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."

At the White House PMI Summit, Louisa Stark, Ph.D., director of the Genetic Science Learning Center and investigator with the Collaboration and Engagement Team of the Utah Center for Clinical and Translational Science also participated in roundtable discussions on the future of the precision medicine.

Learn more about how University of Utah Health Science's innovative approaches to transforming health care and rich legacy in disease gene discovery are advancing the field of precision medicine:

Dr. Might's presentation at the PMI Summit (starts at 1:02:51)

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Media Contacts

Julie Kiefer
Manager, Science Communications , University of Utah Health Sciences Office of Public Affairs
Phone: 801-587-1293
Cell Phone: 801-597-4258
Email: julie.kiefer@hsc.utah.edu

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