Congratulations to Eddie Lee, MD, PhD, an assistant professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania on receiving a three-year Clinical Scientist Development Award (CSDA) for $486,000 from the Doris Duke Charitable Foundation!
This grant will support his ongoing research in Frontotemporal Degeneration (FTD) and Amyotrophic Lateral Sclerosis (ALS).
“Being awarded the DDCF CDSA is a great honor, and an amazing validation of the translational approach that we take here at Penn to tackling neurodegenerative diseases.”
As head of the Translational Neuropathology Research Laboratory, Lee and his colleagues’ goal is to better understand the causes of these neurodegenerative diseases to be able to develop specific disease-modifying therapies.
With this grant, Lee plans to study a mutation in the gene C9orf72, the most common genetic cause of FTD and ALS, explained below.
“A subset of patients with the C9orf72 mutation exhibit DNA hypermethylation which partially silences the mutant C9orf72 gene. We have found that this DNA hypermethylation is associated with reduced neuropathologic inclusions in brain tissue, raising the possibility that C9orf72 hypermethylation protects against disease. We are pursuing this by studying the cohort of individuals with the C9orf72 mutation followed by Penn physicians in the PENN FTD Center and the ALS Center at Pennsylvania Hospital. The hope is that understanding these molecular changes in patients and human tissues will lead to novel biomarkers of disease and potentially lead to personalized therapies.”
To learn more about the Doris Duke Charitable Foundation Clinical Scientist Development Award, visit: www.ddcf.org.
* Quotes courtesy of Eddie Lee, MD, PhD Assistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania