The Advisory Board of the Advocacy for Neuroacanthocytosis Patients is pleased to announce the first winner of the Glenn Irvine Prize is Dr. Jae-Sook Park from Dr. Aaron Neiman’s lab at Stony Brook, Long Island, NY, USA.

Dr. Neiman’s nominating statement includes the following:

After receiving her Ph.D. from the University of Calgary, Dr. Park came to Dr. Neiman’s lab as a post-doctoral fellow; she now has the title of Senior Research Scientist.  All of the studies that his lab has published on VPS13 are Dr. Park's work. Early in her time in his lab she performed a genetic screen that identified the yeast VPS13 gene as having a deficit in cytokinesis during spore formation. She helped to establish the current model of VPS13 as a contact site protein and reported the first potential link between mitochondrial dysfunction and chorea-acanthocytosis; she published two first author papers characterizing the role of VPS13 in sporulation in yeast and identifying the first VPS13 partner protein, Spo71. She also published a paper demonstrating that knockdown of VPS13A in PC12 cells produced similar effects on membrane lipids as seen in the yeast knockout cells. The work described in this last paper was made possible in part by a grant from the Advocacy.  

Dr. Park is experienced with tissue culture and her knowledge of these methods has made it possible for his lab to move their experiments from the yeast system into human cells. In work which they hope to submit for publication, she has been extending the model of VPS13 function derived from studies in yeast to test predictions about the behaviour of VPS13A in human cell lines. Additionally, she has generated a large number of new point mutations in the yeast VPS13, many of which display loss of specific functions.  Dr. Neiman’s lab is using these genetic tools to dissect which specific protein interactions and subcellular localizations are relevant to which activities of the VPS13 protein and hope to submit a paper describing these studies in 2020.

Dr. Neiman comments that Dr. Park is deeply committed to the VPS13 project. From the beginning she was motivated to focus on VPS13 by the possible relevance of the yeast studies to the human disease.  As those connections have become clearer, she has only grown more dedicated to unravelling the VPS13 story.  Dr. Neiman’s view is that the route to a treatment for neuroacanthocytosis begins with a detailed understanding of the molecular function(s) of the VPS13 protein.  The contributions Dr. Park has already made provided great insight into how VPS13 proteins work.  Going forward he fully expects Dr. Park to continue to make significant contributions to our understanding of how this protein family functions both in yeast and in human cells.

In addition to the above statement, Drs. Park and Neiman currently have a paper submitted which examines a relationship between VPS13A and XK, thus potentially illuminating the connection between chorea-acanthocytosis and McLeod syndrome.

Dr. Park will present a paper at the Barcelona Symposium in March next year when she will be presented with her prize.