Broad Institute joins White House Precision Medicine Summit with researchers, initiatives to drive health research forward

On Thursday, February 25th, President Obama hosted a panel discussion as part of the White House Precision Medicine Initiative Summit, which included discussions of three Broad initiatives and research projects. The summit highlighted progress made as part of the President’s Precision Medicine Initiative (PMI). First announced in the 2015 State of the Union address, the Precision Medicine Initiative sets out to establish a new model of patient-powered medicine that delivers “the right treatment at the right time to the right person.”

Most medical treatments utilize a “one-size-fits-all” approach. Precision medicine recognizes that each patient is different—and suggests that by identifying the complex mechanisms behind those differences we can learn more about the disease and better predict which treatments will be most effective.

Since its inception in 2004, the Broad Institute has been committed to realizing the full promise of precision medicine. Our scientists make breakthrough discoveries in cancer, psychiatric disease, and diabetes; pioneer new fields of study; develop transformative scientific technologies, methods and resources—all with the goal of propelling the understanding and treatment of human disease.

Today, we are proud to be a driving force in President Obama’s Precision Medicine Initiative—and especially proud of our own Sonia Vallabh, who the President invited to tell her story during the roundtable discussion.

In 2010, Sonia Vallabh lost her mother to genetic prion disease—a rare, progressive, invariably fatal neurodegenerative disease. Months later, the then 26-year-old newlywed, who had just graduated from law school, found out she too carried the same fatal mutation—and was almost certain to share her mother’s fate, unless a cure could be found. In the days and weeks that followed that terrible diagnosis, Vallabh and her husband Eric Minikel made a life-changing decision: to give up their long-planned careers in law and engineering and commit themselves to leading the scientific charge against prion disease.

It’s working. Five years later, Vallabh and Minikel—now Ph.D. students at Harvard Medical School—are conducting research in the Broad’s Center for the Science of Therapeutics and their efforts are showing early progress.

Recently, the couple published their first joint scientific paper, which revealed that the genetic risk associated with prion disease is not in fact universal, but actually varies dramatically depending on the individual’s exact genetic mutation. Their findings have already changed one patient’s prognosis. In addition, the study also identified three previously unknown mutations that effectively inactivate or "knock out" one copy of the prion protein gene. These mutations were found in otherwise healthy patients, suggesting that targeting the prion protein itself may be a viable therapeutic strategy.

To learn more about Sonia and Eric and their efforts to develop a treatment for prion disease, read coverage in:

• Boston Globe: A husband and wife’s race to cure her fatal genetic disease
• BroadIgnite: Eric Minikel and Sonia Vallabh
• The Atlantic: Insomnia that kills
• New Yorker: A Prion love story
• CureFFI.org

The Metastatic Breast Cancer Project

Members of the MBCproject patient panel touring the Broad Genomics Platform, pictured here with MBCproject lead investigator Nikhil Wagle and project director Corrie Painter.

The MBCproject leverages direct-to-patient engagement via social media as a means for partnering directly with individuals who otherwise might never have the opportunity to contribute to research. By empowering patients to share tumor samples and clinical information, regardless of their where in the U.S. they live, the MBCproject is democratizing research and accelerating the pace of discovery.

Of the 200,000 women and men diagnosed with breast cancer in the U.S. each year, and estimated 30% will develop metastatic breast cancer. And although progress has been made in treating breast cancer, MBC remains incurable, with more than 40,000 patients dying from the disease in the U.S. each year. The MBCproject seeks to transform the understanding of metastatic breast cancer by interpreting individual tumor genomes and medical records from patients and using that insight to make discoveries that could lead to new treatments.

To date, more than 1,500 men and women with metastatic breast cancer have enrolled to share their samples, their clinical information, and their voices.

You can find more information about the MBC Project at the following links: 

• Metastatic Breast Cancer Project
• Wall Street Journal: Researchers take aim at metastatic breast cancer
• Broad Institute: Power to the patients
• Stat News: Breast cancer patients encouraged to share genetic data in new project

Global A-T Family Data Project

Later this year, the Broad Institute will embark on a cloud-based research project aimed at studying Ataxia Telangiectasia—a rare, inherited neurodegenerative disorder.

Launched in partnership with the Ataxia Telangiectasia (A-T) Children’s Project, the Global A-T Family Data Platform will establish a disease registry that enables direct participant engagement, including consent and recontact, via intuitive web and mobile interfaces. The platform will include results of whole genome sequencing, electronic medical records, and patient and caregiver questionnaires. Future efforts may also include wearable and sensor applications. The cloud-based platform will allow qualified researchers to securely access the derived clinical and genomic data and provide a model for direct, bilateral participant engagement that can be used with other disease organizations in working to advance research and care. 

These projects and individuals represent just a sample of the groundbreaking work underway at the Broad Institute and with our collaborators in support of the Precision Medicine Initiative’s mission: “To enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized care.”