March 6, 2018
Bioscience Notebook

Alexion, Boston hospital partner on rare disease research

Photo | Contributed
Photo | Contributed
An aerial view of Alexion's New Haven headquarters.

Alexion Pharmaceuticals Inc. has a new partnership with a leading research institution in its soon-to-be home city.

Alexion, which plans to move its New Haven headquarters to Boston this year, said it is collaborating with Boston Children's Hospital to use artificial intelligence to improve diagnosis of rare diseases in children.

"Data science approaches hold great promise for addressing the challenge of quickly and accurately diagnosing rare diseases," said John Reynders, vice president of strategy, program management and data sciences at Alexion.

The rare-disease drugmaker said it will share its 20 Rare-Disease Questions (20RDQ) artificial intelligence platform with the hospital's Manton Center for Orphan Disease Research and its Innovation and Digital Health Accelerator.

Alexion's 20RDQ is a series of guided questions based on the medical history and record of a patient with an unknown condition, which is combined with a database of clinical definitions and features of rare diseases.

The Manton Center said it will marry the AI platform with software to create digital descriptions of patients, which can be combined with genomic sequencing to produce a list of suspected genetic mutations in different rare diseases that doctors can use to help with a diagnosis.

"This will accelerate diagnoses and clarify available paths of intervention," said Catherine Brownstein, geneticist at Boston Children's and principal investigator of the project.

In other news, New Haven's Biohaven Pharmaceuticals Holding Co. Ltd. said Tuesday it has enrolled its first patient in a Phase 3 clinical trial of an orally-dissolving version of its migraine drug rimegepant

Last week, Biohaven said the drug was as effective as the tablet formula in another recent study.

Part of a new class of drugs known as CGRP receptor antagonists, rimegepant works to stop migraines by blocking a brain chemical that transmits pain.

Biohaven CEO Vlad Coric said the orally-dissolving tablet is particularly useful for migraine patients, since they can take it instantly without water when an attack hits.

Also last week, Achillion Pharmaceuticals Inc. launched a patient support initiative aimed at raising awareness of the rare and debilitating kidney disease C3 glomerulopathy (C3G).

Called WeC3G, the initiative connects patients and families living with the illness to information, support, resources and each other, Achillion said.

The launch includes a website, educational material, a digital toolkit and sign ups for news and updates, Achillion said.

The New Haven biotech is developing a drug to treat the disease.

Natalie Missakian can be reached at

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