This page is dedicated to the Infantile Nystagmus Syndrome research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Infantile Nystagmus Syndrome research study, established at Boston Children’s in 2024, is led by Drs. Mary Whitman, Anne Fulton, and Pablo Altschwager Kreft and has enrolled 46 patients and their families. The study aims to identify genetic causes of infantile nystagmus syndrome and provide personalized medicine.