Welcome

The lab of Dr. Timothy Yu at Boston Children’s Hospital

 
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 Our Mission

We aim to uncover the genetic and neurobiological underpinnings of autism and related disorders of human neurodevelopment.

We take genetic, bioinformatic, and molecular approaches to understand how the human brain is miswired in these conditions,
and translate this understanding into better patient care. To learn more, see our research interests and publications

#genetics #neurobiology #informatics #autism #genomicmedicine

News Updates

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Seattle, WA: award from the american college of medical genetics

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.

SAn Diego, CA: American society for human genetics

Our laboratory presented the first example of a fully personalized genomic therapy for a young child, named Mila, with a rapidly progressive and fatal neurodegenerative disease.

This therapy, an antisense oligonucleotide individualized to the patient’s genetic mutation, was developed and implemented by our lab in under one year. We shared this project at the annual American Society for Human Genetics (ASHG) conference.

Presentation at the FAST Science Summit

Rare Disease Day talk with Julia Vitarello

CAmbridge, Ma: Rare Disease Day at the Broad Institute

One year after beginning the ASO treatment, Tim went with Mila’s mother, Julia, to share her story at the Rare Disease Day conference at the Broad Institute.

The aptly titled “Decoding genomes, unlocking therapies” session recounted the path from molecular diagnosis to experimental treatment development.

Boulder, CO: GoldLab Symposium

During the final presentation of the two-day GoldLab symposium, Tim and Julia had the unique opportunity to tell Mila’s story in her hometown of Boulder, Colorado.

Sharing and incorporating both parental and scientific perspectives is important to conveying the challenges faced by all in the rare disease community.

Presentation at the GoldLab Symposium

Press Coverage

EurekAlert!

June 20, 2019

NeurologyToday

June 20,2019

genomeweb

June 17, 2019

Left Hand Valley Courier

May 30, 2019

A-T Children’s Project

November 30, 2018

Science Magazine

October 19, 2018

Stat News

October 22, 2018