RARE-X, Broad Institute to Advance Rare Disease Research

Vanda Pinto, PhD avatar

by Vanda Pinto, PhD |

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Firdapse, Japan

RARE-X, a collaborative platform for patient-controlled data collection, global data sharing and analysis, is partnering with the Broad Institute of MIT and Harvard to advance and support the discovery of new treatments for 9,500 rare diseases, including Lambert-Eaton myasthenic syndrome (LEMS).

The collaboration will leverage Broad Institute’s technology to assist in patient data collection and sharing.

“Partnering with the Broad Institute is especially valuable to the rare disease community; benefits include leveraging best-in-class technology, aligning on patient-ownership of data, and linking to the deep collaborations the Broad Institute has with biopharma and research,” Nicole Boice, founder and CEO of RARE-X, said in a press release.

“What RARE-X brings to this partnership is depth in understanding of rare disease patients and many of the nuances associated with rare disease research,” Boice said.

RARE-X is a patient advocacy nonprofit organization that supports the gathering, structuring, and sharing of patient data. According to the organization’s website, making sure that patients’ data is inclusive and accessible for research can improve rare disease diagnosis, as well as support the discovery and development of new treatments.

“This is a unique opportunity to level the playing field for patients and researchers to participate in and drive future treatments and cures. All patients and rare disease communities should be counted and can bring forward research-quality data easily and efficiently,” said Boice. “And all researchers, regardless of access to infrastructure and funding, should have the ability to test hypotheses and participate in driving new knowledge and ideas to support often overlooked rare diseases.”

Broad Institute has a history of collaborating with other nonprofit patient advocacy organizations and supporting patient-partnered research in the fields of Genomics, Population Health, and Cancer. Since 2015, their scientists have been running a platform that supports projects like “Count Me In,” an initiative allows cancer patients to donate medical records, genomic data, and tumor samples for research.

The platform will now broaden its use to support rare disease research and potentially affect the lives of 400 million patients worldwide.

“It’s an honor to partner with RARE-X on this important effort,” said Anthony Philippakis, MD, PhD, chief data officer at the Broad Institute. “By bringing Broad’s expertise in data generation and data analysis together with RARE-X’s capabilities in patient engagement and patient advocacy, we can work together to accelerate progress in science and medicine.”