Super excited to announce the publication of our study identifying variants in ASPH as a new cause of exertional heat illness and malignant hyperthermia. Amazing work by Yukari Endo and great multi investigator collaboration. Link: rdcu.be/cPyZE

New! Sondheimer et al. identify mitochondrial PCK2 dysfunction as a cause of peripheral neuropathy #OA bit.ly/3ZUP220

Happy #WomenInScience day! A thank you to my amazing mentors - Elaine Fuchs and Eva Feldman. A shout out to my colleagues who are continuing to trail blaze. And lastly a big thanks to the amazing women scientists in my lab who make my team such a great one

Back in Toronto after a great week at the MDA gene therapy summit and the Carrell Krusen Symposium at UT Southwestern. Special thanks to Susan Iannaccone and Kaitlin Batley and their team for hosting such a great event.

A special “shout out” to Yukari Endo, an amazing scientist who is a newly minted assistant prof at Juntendo University SoM (Tokyo). It’s a bittersweet day for my lab, as she has been such a valuable contributor and amazing lab member. So happy she is staying in the muscle field!

Congrats to Jim Dowling & colleagues for their new Journal of Clinical Investigation paper: Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. tinyurl.com/4428jbae