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
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.
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.