2020 Boston Marathon

Our genetic counselor, Tori, will be running the 2020 Boston Marathon for the Miles for Miracles Foundation. Miles for Miracles raises funds for Boston Children’s Hospitals areas of greatest need, including patient care, medical research, and community health programs.

Please see and share Tori’s fundraising page to learn more about her connections to Boston Children’s Hospital.


Tim Yu
B.A.A. Half Marathon

On October 13th Tojo, Tori, Diana, and Aubrie completed the Boston Athletic Association Half Marathon (while wearing our new Yu Lab t-shirts)! Congrats guys!

Tim Yu
Come find us at ASHG!

Boxun is present a poster on retrotransposons in cortical neurons and non-brain tissues of Rett patients on Thursday October 17th at 2. Read his abstract here!

Tojo is presenting a poster on RFX genes as a common cause of autism and ADHD during the poster session on Friday October 19th at 1. Read his abstract here!

Tim Yu
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

Recessive Gene Disruptions in Autism

The data in our latest publication in Nature Genetics refine estimates of the contribution of recessive mutations to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association and large-scale sequencing studies strongly implicate both common variants and rare de novo variants in ASD. Recessive mutations have also been implicated but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.


Press Coverage

Congrats Cynthia!

Cynthia was granted the 2019 PerkinElmer Diagnostic Travel Award by the American College of Medical Genetics and Genomics (ACMG), commemorating her project and platform presentation titled "Rapid turnaround whole exome sequencing for critically ill neonates.”

This project investigated early implementation of genomics tools that have potential to accelerate the time to diagnosis and treatment for genetic diseases.

AwardsTim Yurapidexome, ngs
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