My Research

I am interested in the molecular and cellular mechanisms underlying neurological disease. While the etiology of diseases like Autism Spectrum Disorder (ASD) and Parkinson’s disease is complex, the study and identification genes responsible for rare disorders can offer insight into more common conditions. To support the discovery and characterization of novel genes involved in a variety of ill-defined neurological conditions, I am part of the Model Organism Screening Center (MOSC) under the umbrella of the Undiagnosed Diseases Network (UDN). The UDN uses next-generation sequencing (whole-genome and whole-exome) to identify candidate causative gene variant(s) in rare disease patients. To support the molecular diagnosis, I use a range of techniques in Drosophila to assess the functional consequences of the patient variant in vivo. Additionally, rapid generation of Drosophila with strong loss of function alleles in these genes provides a phenotyping and screening platform for subsequent mechanistic studies and drug testing.

I am currently trying to understand how excess Wnt signaling in neurons can lead to neuronal dysfunction and demise. I was led to this by determining the mechanism underlying IRF2BPL-related neuroregression (NEDAMSS). De novo truncations in IRF2BPL cause a severe neuroregression in children and IRF2BPL is also a top candidate ASD gene (SFARI Gene). I have found that IRF2BPL is critical for both neural development and long-term maintenance, and loss of IRF2BPL results in excess Wnt signaling in the CNS.

Funding / donations for IRF2BPL-related disorders: The STAND BY ELI foundation.

Last updated: 7 Nov 2021