Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Today marks the publication of our manuscript, Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease,” in the New England Journal of Medicine. This article describes an example of individualized genomic medicine: the timely development of a novel drug for a patient with a rare, progressive, neurodegenerative disease. It is accompanied by an editorial penned by Drs. Janet Woodcock and Peter Marks, heads of the FDA’s Center for Drug Evaluation and Research (CDER) and the Center for Biologics Evaluation and Research (CBER), respectively.

Congratulations to co-first authors Chungaung “April” Hu, MD, PhD and Jinkuk Kim, PhD! And thank you to an incredible team of collaborators, without whom this work would have never come to fruition: the BCH Departments of Neurology, Anesthesiology, and Genetics, the Institutional Center for Clinical Translational Research at Boston Children’s, the Mazzulli Lab at Northwestern, TriLink, Brammer Bio, Charles River Laboratories, the FDA, and Mila’s Miracle Foundation.