Simulating common causes of TS in worms

Rosie Bauer, Post-baccalaureate Intramural Research Training Awardee, National Institutes of Health

I became interested in Timothy syndrome while working in Andy Golden’s lab at NIH, which I joined as a post-baccalaureate trainee in 2018. In Andy’s lab we use C. elegans to model a variety of rare genetic diseases.

Throughout my time at NIH, I studied the gene egl-19, which is the worm version of the human gene CACNA1C. I focused on making the same genetic changes that are common causes of TS – like G406R and G402S – in worms.

By studying these changes in an animal model we hope to learn about the basic biology of TS. 

I was further motivated to study TS when I attended the SADS conference in Atlanta. After spending the whole weekend hanging out with kids and parents, I was so excited to go back to the lab and keep working on my TS worms!

It was a fantastic experience and I hope someday the work I have done will help these families.

I am now a graduate student at Northwestern University. I am so grateful to Katherine and the TS families for welcoming me into their world and motivating me to continue doing meaningful science.

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