Image uploaded from iOS.jpg

 Our Mission

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 Research and Publications . 

#genetics #neurobiology #informatics #autism #genomicmedicine

News Updates

Neuronal culture.jpg

ACMG 2019

Cynthia was awarded the 2019 PerkinElmer Diagnostic Travel Award by the ACMG for her project — "Rapid turnaround whole exome sequencing for critically ill neonates.”

Antisense OligoNucleotide Therapy

Last October in San Diego, we were thankful to have the opportunity to present our latest work at the annual meeting of the American Society for Human Genetics: the first example of a fully personalized genomic therapy, developed and deployed by our laboratory in less than one year for a young child with a rapidly progressive and fatal neurodegenerative disease. Read our abstract here, and representative news coverage at the links below. For more information, please feel free to contact us.

Watch Tim’s talk from the 2018 FAST Science Summit

Watch Tim’s Rare Disease Day talk with Julia Vitarello

One year after beginning this treatment, Tim had the opportunity to sit down with the patient’s mother and share her story on Rare Disease Day 2019 at The Broad Institute.

Tim and Julia had the unique opportunity to tell Mila’s story in her hometown of Boulder, Colorado. They gave the final presentation at the two-day GoldLab Symposium in May 2019.

Click to watch Tim and Julia’s talk from the GoldLab Symposium!

Press Coverage

Science Magazine

October 19, 2018

A-T Children’s Project

November 30, 2018

Stat News

October 22, 2018