tychele

My research focuses on discovering and understanding genetic factors involved in neurodevelopmental disorders (NDDs), like autism. I've extensively studied autism in rare families, assessed how these genes work, and analyzed large amounts of genetic data from whole-exome and whole-genome sequencing. My findings include the role of biological sex in disorders that are more common in one sex, the impact of rare inherited genetic changes in autism, and identifying new genetic changes that don't code for proteins in autism.

Since starting my lab at Washington University (WashU) in St. Louis in September 2019, we have focused on noncoding genetic changes in NDDs, developing new computational methods, and creating a framework to study 9p minus syndrome. My lab has published nine peer-reviewed papers and one preprint currently under review. WashU is the leading research center for 9p minus syndrome, with experts in clinical, genomic, and functional approaches. We work closely with the Chromosome 9p Network and recently published a paper where we studied genetic data from 719 individuals with 9p deletion and duplication syndromes and applied detailed genomic analysis to one family. We aim to identify all relevant genetic variations down to the precise nucleotide.

July 2024