Posts tagged genomicmedicine
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.

Press Coverage

Rare Disease Day

Our lab has a special interest in rare diseases. There are 350 million people living with rare diseases worldwide, 30 million of them in the US alone. Of these 30 million people, over 2 million are affected with fatal neurologic genetic condition and half of them are children. While many rare or orphan diseases are currently lacking treatment options, we are working towards a future where streamlined treatment modalities can be customized to work for a greater number of these children. Motivated by our Batten trial, we are currently pursuing treatments for subsets of patients with other rare diseases including ataxia telangiectasia.

Tim had the opportunity to share Mila’s story with her mother Julia at the Broad Institute’s Rare Disease Day Symposium — Focus on Rare Disease: Decoding genomes, unlocking therapies.


Tim and Julia discuss precision medicine for rare diseases from the perspective of a parent and a physician scientist.

2019 FAST Science Summit

Tim tells the story of Mila, a young girl with a rare, fatal, neurodegenerative condition called Batten disease, for whom the Yu Lab developed an experimental ASO therapy personalized to her specific genetic variant.

This presentation recounts the aggressive timeline from ASO development to clinical trial implementation, the challenges present for both researchers and families integrated in the rare disease community, and what these advances might mean for personalized medicine in the future.

Thank you to the ASHG...

We had a great time at the American Society of Human Genetics meeting in Tim’s Home Town of San Diego.


On October 19th, Cynthia presented a poster (and winner of a Readers’ Choice Award!) on her Rapid Exome NICU Sequencing project.



Later that evening, Tim had the opportunity to present our work on a patient-customized oligo for therapy in an ultra-rare genetic disease for the first time during the Late Breaking Abstract Plenary Session. We are truly overwhelmed by the response that it has received!


Science Magazine

October 19, 2018


October 22, 2018