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
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.
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.