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Building AI Boston

Revolutionizing Rare Disease Diagnosis with AI | Dr. Catherine Brownstein

03 Jul 2025

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In this episode of Building AI Boston, we’re honored to welcome Dr. Catherine Brownstein, a leading force in pediatric genomics and rare disease research at Boston Children’s Hospital. Dr. Brownstein shares how AI is revolutionizing how we diagnose and treat rare diseases, her collaboration with OpenAI, and why Boston is a global hub for medical innovation. With over 15 years of experience in bioinformatics, genomics, and computational biology, she walks us through groundbreaking AI projects that are changing lives—especially for children with conditions that once defied diagnosis. Whether you're interested in healthcare innovation, artificial intelligence, or the future of personalized medicine, this is a must-watch conversation. Guest: Dr. Catherine Brownstein Scientific Director of the Manton Center for Orphan Disease Research Boston Children’s Hospital / Assistant Professor at Harvard Medical School Learn more about her work: https://www.childrenshospital.org/research/researchers/catherine-brownstein https://connects.catalyst.harvard.edu/Profiles/display/Person/47081 Watch more episodes: https://www.youtube.com/@BuildingAIBoston#AIinHealthcare #BostonChildrensHospital #RareDiseases #CatherineBrownstein #ArtificialIntelligence #OpenAI #Genomics #PrecisionMedicine #Pediatrics #BuildingAIBoston #HarvardMedicalSchool #MedicalInnovation #BostonAI #HealthcareTech

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