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Children’s Rare Disease Collaborative

Perspectives from Experts

The Boston Children’s Rare Disease Collaborative (CRDC) is a hospital-wide research effort established in 2018 and includes 57 rare disease studies. The CRDC aims to find and understand genetic causes of rare diseases to facilitate research-informed care. Providing families with a genetic diagnosis can lead to precision medicine including personalized management with current medications as well as development of new targeted therapies.

Speakers:

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CRDC as the Institutional Genomic Research Platform
Dr. Piotr Sliz
Vice President & Chief Research Information Officer
CRDC Steering Committee member and operational leader
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Maximizing Research Findings
Dr. Alan Beggs
Director, The Manton Center for Orphan Disease Research
CRDC Steering Committee Member and scientist leading research on myopathies and dystrophies
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Research Informed Clinical Care
Dr. Alissa D’Gama
Neonatologist
Leading research on genetic diagnosis in pediatric epilepsies
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