Angela Lek, PhD, will share her scientific journey as an FSHD researcher. Her work is focused on understanding the molecular circuits that are perturbed in response to DUX4 misexpression in muscle cells. Her lab performed a genetic screen to systematically turn on and off every human gene in an attempt to identify the key factors responsible for enabling DUX4 to exert its toxic effect. Her results illuminate a pathway that can be targeted with existing drugs to prevent cell death in the presence of DUX4. She will share details of her journey into repurposing existing drugs to treat FSHD, and what the future holds with regards to the results of their experiments using patient cells and FSHD mouse models.
Lek is a research scientist in Yale Medical School with a strong passion in understanding how genetic defects lead to muscle wasting and discovering opportunities for how to treat them. Her personal connection to muscular dystrophy has shaped a decade-long journey into specialized areas of genetics, cell and molecular biology. She has traveled across the globe and trained with many experts in the field who have helped her establish the skill set required to lead an independent research program in several areas of muscular dystrophy. She finds FSHD by far the most fascinating form and focuses a lot of her time trying to unlock the mysteries surrounding how activation of a rogue gene (DUX4) can lead to cell death.