The Chan Zuckerberg Initiative (CZI) has awarded the Brotman Baty Institute $4.5 million to advance its work on genetic variants, including partnering with patient organizations within CZI’s “Rare As One” Project.
The two-year project will enable BBI to make significant progress toward creating a comprehensive Atlas of Variant Effects (AVE), benefitting clinicians and individuals carrying rare genetic variants, which often have unknown or poorly understood effects.
“Understanding how a person’s genetic variants affect their health and risk of disease is a critical step towards CZI’s mission to cure, prevent, or manage all diseases by the end of the 21st Century,” said BBI’s Lea Starita, Ph.D., who with BBI’s Doug Fowler, Ph.D., is leading the project. “Working directly with patient organizations within the Rare-As-One Network is a unique opportunity.”
By revealing how disease-associated genetic variants perturb molecular and cellular function, the AVE will advance precision medicine and help enable research and development of new, individualized treatments. Moreover, variant effect data is necessary to build AI systems to predict whether and how genetic variants alter cell and human biology.
“At the Chan Zuckerberg Initiative, we are committed to bridging the gap between patient communities, scientists and clinicians to address some of the most complex and challenging questions in rare disease research,” said Garabet Yeretssian, Ph.D., Senior Program Manager, Cell Science at CZI. “Our partnership with the Brotman Baty Institute represents a significant step forward in systematically advancing functional characterization of genetic variants, unlocking critical insights into disease mechanisms, and paving the way for precision diagnostics and treatments that can improve outcomes for people living with rare disease.”
