Manton Center and Alexion Partner to Improve Rare Research


The Manton Center for Orphan Disease Research at Boston Children’s Hospital and Alexion Pharmaceuticals aim to increase the accuracy and precision of diagnosing pediatric rare disease patients.

A new collaboration between the Manton Center for Orphan Disease Research at Boston Children’s Hospital and Alexion Pharmaceuticals aims to improve artificial intelligence models and increase the accuracy and precision of diagnosing pediatric rare disease patients.

“This partnership combines the unique strengths of each of our organizations to answer critical questions posed by puzzling and difficult diseases,” said Alan Beggs, PhD, Director of the Manton Center at Boston Children’s Hospital in a press release.

The Manton Center is renowned for its expertise in diagnosing and treating rare diseases. As the first and only center entirely dedicated to orphan disease research, scientists at the institute have accepted the responsibility to distribute their findings to medical and scientific communities around the world to increase interest and awareness.

Alexion’s genomics and data sciences capabilities have allowed the company to become the global leader in complement inhibition. As a part of the collaboration, the biopharmaceutical company’s 20 Rare-Disease Questions (20RDQ) platform will be shared with the Manton Center.

20RQD is a series of guided questions based on the medical history and record of an undiagnosed patient. The survey also includes clinical definitions and features of specific conditions. Clinicians can use 20RDQ to investigate correlations among rare disease patients, resulting in a rapid diagnosis of a patient with an unknown condition.

The questionnaire will be used by the Manton Center to develop a software that can create computable descriptions of patients along with genomic sequencing, producing a list of suspected genetic mutations causing several rare diseases. The list will be reviewed by a physician as a tool to diagnose the patient.

“This will accelerate diagnoses and clarify available paths of intervention,” said Catherine Brownstein, PhD, Geneticist at Boston Children’s and principal investigator of the project.

Alexion’s global leadership in serving rare disease patients and Boston Children’s Hospital’s legacy of cutting edge health services will help establish the successful partnership. The collaborative effort will create new sets of computable descriptions of hundreds of diagnosed and undiagnosed rare disease patients to improve artificial intelligence and diagnosis processes.

“Data science approaches hold great promise for addressing the challenge of quickly and accurately diagnosing rare diseases. It is through collaborations such as this that combine expert clinical insight with cutting edge artificial intelligence that have the potential to make a profound difference to patients and their families,” said John Reynders, PhD, Vice President of Strategy, Program Management, and Data Sciences at Alexion.

For more on partnerships and collaborations working toward improvements throughout the rare disease community, follow Rare Disease Report on Facebook and Twitter.

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