Boston Children's, Harvard Medical School enter Patient-Empowered Precision Medicine Alliance

Researchers at Boston Children's Hospital and Harvard Medical School, with collaborators at the University of Utah, Recursion Pharmaceuticals and Pairnomix LLC, today announce the formation of the Patient-Empowered Precision Medicine Alliance, led by parent/citizen scientist Matthew Might.

Inspired by President Obama's Precision Medicine Initiative (PMI), the Alliance will leverage genomic medicine and bioinformatics to find precise diagnoses and customized drug treatments for patients with rare or unknown conditions.

The Alliance and other projects around the country will be announced during a PMI Summit at the White House, webcast live Thursday, February 25, beginning at 10 a.m. ET at http://www.whitehouse.gov/live.

The Alliance's pilot project will seek treatments for a group of rare genetic disorders, applying a precision medicine algorithm developed by Might in the process of seeking answers for his son. Ultimately, the Alliance aims to develop a scalable infrastructure for delivering precision medicine that could be used in any clinic or hospital. Currently, patients must navigate the health care system on their own, often traveling great distances and receiving fragmented care.

"Precision medicine is about individualized treatment, yet, for individuals, navigating care options is often daunting and frustrating," says Might, who will recount his personal journey during the PMI Summit webcast. "We've structured the Alliance to work with patients to craft and execute research and care plans that take them toward the outcomes they seek—from diagnosis all the way to therapy."

Toward this end, the Alliance will tap the big data expertise of Harvard Medical School's Department of Biomedical Informatics (DBMI), the rare/undiagnosed disease expertise of Boston Children's Hospital's Manton Center for Orphan Disease Research, the pharmacy and genomics expertise of the College of Pharmacy at the University of Utah and the rapid drug-screening capabilities of industry partners Recursion Pharmaceuticals and Pairnomix. Patients' port of entry will be a coordinating center hosted by the DBMI under its chair Isaac Kohane, MD, PhD, who is also on the faculty of the Boston Children's Computational Health Informatics Program (CHIP).

"With recent advances in genomics and genetic testing, we can now rapidly identify the mutations responsible for many rare or 'orphan' diseases," says Alan Beggs, PhD, director of Boston Children's Manton Center. "The challenge now is to turn these discoveries into targeted treatments through partnerships among geneticists, biochemists, pharmacologists and, most importantly, patients and their families. Our Alliance unites hospital and university research groups, pharmaceutical and biotech companies and the patient community to allow rapid drug discovery, preclinical testing and development."

In some cases, it may be possible to repurpose existing drugs for rare diseases. The Alliance has set the goal of finding such existing therapies within 12 months of a patient's diagnosis through targeted screening methods that employ the patient's own cells or unique mutations as well as novel bioinformatics algorithms that crunch patient data against pharmaceutical databases. Data sources to be tapped include patient gene expression (transcriptomic) data and biological network data.

"Drug development from scratch is too costly to even begin to address our patients' needs," says Kohane. "Fortunately, the arsenal of FDA-approved drugs is under-exploited. For any condition, some combination of existing drugs may be an effective treatment, but figuring out the right combination has been an intractable challenge—until now. Thanks to the increased public availability of high quality data sources, we have the opportunity to 'compute' the right drugs at a time scale and cost far below that of drug development."

Provided by Children's Hospital Boston