Power to the Patients

HMS helps form new Patient-Empowered Precision Medicine Alliance

Image: Pixtum/iStock

Image: Pixtum/iStock

Researchers at Harvard Medical School, Boston Children’s Hospital and collaborating institutions today announced the formation of the Patient-Empowered Precision Medicine Alliance.

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

“Precision medicine is about individualized treatment, yet, for individuals, navigating care options is often daunting and frustrating" - Matt Might

“Drug development from scratch is too costly to even begin to address our patients’ needs,” said Isaac Kohane, the Marion V. Nelson Professor of Biomedical Informatics and head of the Department of Biomedical Informatics (DBMI) at HMS.

“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,” Kohane said.

The patients’ port of entry will be a coordinating center hosted by DBMI. This approach builds on a successful model developed by DBMI for the Undiagnosed Diseases Network, which assists patients across the U.S. who are seeking genome sequencing and experts to help them as they search for answers.

The alliance and other projects around the country were announced during a PMI Summit at the White House on Feb. 25. The patient-driven precision medicine movement is one that HMS has been promoting through DBMI's patient-driven Precision Medicine Conferences for several years.

The new alliance’s pilot project, led by parent and citizen scientist Matthew Might, visiting associate professor of biomedical informatics at HMS, will seek treatments for a group of rare genetic disorders by applying a precision medicine algorithm he developed while seeking answers for his son, who was diagnosed with a previously unknown syndrome called NGLY1 deficiency.

Scalable Infrastructure

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,” said Might.

“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,” he said.

Toward this end, the alliance will tap the “big data” expertise of the DBMI, the rare/undiagnosed disease expertise of Boston Children’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.

“With recent advances in genomics and genetic testing, we can now rapidly identify the mutations responsible for many rare or orphan diseases,” said Alan Beggs, the Sir Edwin and Lady Manton Professor of Pediatrics at HMS and 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,” Beggs said.

“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,” he said.

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.

Also attending the White House announcement and participating in a round table summit was Sonia Vallabh, who together with her husband, Eric Minikel, are leading research efforts into the causes of prion diseases—fatal neurodegenerative diseases caused by misfolded proteins and known by various names, such as Creutzfeldt-Jakob disease, fatal familial insomnia, and Gertsmann-Sträussler-Scheinker disease—for which, at present, there is no treatment or cure.

Vallabh lost her mother to genetic prion disease in 2010 and now, both she and her husband are PhD students at Harvard Medical School conducting research into the disease at the Broad Institute's Center for the Science of Therapeutics.

Adapted from a Boston Children’s news release.