Research team receives Chan Zuckerberg Initiative grant to study rare neurological disorder

(l to r) Annabel and her sister. Photo credit: Hope for Annabel (l to r) Annabel and her sister. Photo provided by Hope for Annabel and Claire Harvey Photography.

Research team receives Chan Zuckerberg Initiative grant to study rare neurological disorder

A team from The Jackson Laboratory, the Broad Institute of MIT and Harvard, Massachusetts General Hospital, and Hope for Annabel has received a $2 million grant to research the cause of Alternating Hemiplegia of Childhood (AHC), a rare and devastating neurological disorder that affects children.

Thanks to funding awarded by the Chan Zuckerberg Initiative, the team will determine how ATP1A3 mutation dominance causes the disease by correcting the mutated gene and studying the effects on cell and mouse models.

AHC affects one in a million patients; there are about 1,000 diagnosed cases in the world. Because of its rarity and varied phenotype, the disease is often misdiagnosed, most commonly as epilepsy. AHC can lead to death, brain atrophy, and sudden, permanent degeneration.

“It is critical to our mission at the JAX Rare Disease Translational Center to partner with patient organizations and other scientific experts to advance our understanding of rare diseases,” said Cat Lutz, Ph.D., MBA, the Center’s vice president. “This grant is a major milestone for the team, and we are proud to collaborate with Hope for Annabel, the Broad Institute of MIT and Harvard and Massachusetts General Hospital to make significant progress toward finding a cure for this devastating disease.”

By understanding the underlying mechanisms of AHC, the team hopes to pave the way for new treatments and potential cures for the disease.

“Our lab is thrilled to join an outstanding team of clinicians and researchers that bring AHC expertise at every level – molecular, cellular, animal model, and clinical,” said David R. Liu, Ph.D., Richard Merkin Professor and Director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of MIT and Harvard. “I’m hopeful that together we can move the possibility of an effective, durable AHC treatment closer to reality.”

This project is funded by the Chan Zuckerberg Initiative’s Patient-Partnered Collaborations for Rare and Neurodegenerative Disease, which aims to advance the understanding of rare diseases. The research team was one of five awardees receiving $2 million over four years. Initial funding is $1 million for two years, followed by another $1 million pending evaluation.

Hope for Annabel was founded in 2018 by Simon and Nina Frost after their youngest daughter, Annabel, was diagnosed with AHC. Since its inception, the organization’s vision has been to support and direct patient-centric research to accelerate scientific discovery relevant to AHC. Hope for Annabel serves as a hub for the larger AHC patient community, helping to direct and interpret the research team’s projects.

“We are honored to work with such a powerful team of leading experts in their respective fields,” said Simon Frost, co-founder of Hope for Annabel and patient primary investigator on the project. “As an AHC community, we have developed close relationships with the scientists on the project team. Uniting them in a single, coordinated effort holds immense promise for a future therapy for AHC patients.”