Human mutations in many of the core ATG proteins has been identified as underlying the development of pathological conditions including neurodegenerative diseases. Recently our lab has contributed to the identification of mutations in WIPI2, a PI3P effector required for initiation of autophagy. This work is providing important insights into how WIPI2 functions to maintain autophagy and cell health both in cell models and human patient cells. Current experiments in cell models are in progress with WIPI2 and other ATG proteins to understand the molecular basis of the mutations on the function of these proteins and autophagy. To translate this molecular work into relevant cell models will require development of iPSC cell models, and the understanding of the effect of the mutations at a molecular level. The role of the successful post-doctoral applicant will be to develop these cell models and perform the experiments to elucidate the casue of the human disease in collaboration with clinical expertise.

In this project, some of the specific aims include but are not limited to:

· Development of iPSC models, and other human models to reveal the phenotypes associated with human patient mutations in autophagy and other cellular pathways

· Identification of the molecular basis for the cellular phenotypes

· Translation of the mechanisms discovered into relevant therapeutics

The postholder will be responsible for carrying out well-controlled, reproducible experiments which address a well developed hypothesis. Postdoctoral Fellows will lead their own projects, contribute to other projects on a collaborative basis (both in the lab

and with external collaborators) and may guide PhD students in their research. The ability to work in a team is essential.