Max Horlbeck, MD, PhD

Dr. Max Horlbeck is an Attending Physician in Genetics and co-director of the EpiChroma Clinic. He also sees patients in the Kleefstra Syndrome Clinic.
He was previously a Clinical Fellow in the Combined Pediatrics-Genetics Residency Training Program at Boston Children’s Hospital. He is originally from New Jersey and obtained an MD and PhD from the University of California, San Francisco. During his PhD research, he developed tools based on CRISPR technology that enable researchers to systematically turn genes on and off in order to discover new gene functions. Through this work and his medical school training, he came to appreciate the vast gap between our ability to read the DNA of patients and our understanding of how small spelling changes can lead to the broad range of symptoms that affect people living with rare disease. This inspired him to join Boston Children’s Hospital for Pediatrics Residency and is now completing the Genetics Fellowship portion of his training.
His current research focuses on using the CRISPR-based tools he developed to generate a large-scale map of the genes involved in modifying chromatin and their role in regulating target genes, with the ultimate goal of better understanding and treating disorders of epigenetic dysregulation.
To view his Harvard Catalyst profile, click here.