In this engaging conversation, Dr. Catherine Brownstein, an Assistant Professor at Boston Children's Hospital and Harvard Medical School, discusses her groundbreaking work in identifying genetic causes of rare diseases. She shares how AI, particularly through her ChatGPT Pro grant, is transforming diagnostics and accelerating patient care. The dialogue uncovers the complexities of genetic testing, the emotional impacts on families, and the critical need for collective data sharing to enhance our understanding and treatment of rare diseases. Dr. Brownstein's insights illuminate the promising future of AI in medicine.