The Developmental Synaptopathies Consortium (DSC) and PTEN Research Foundation are announcing the selection of their first-ever Young Investigator Award for PTEN hamartoma tumor syndrome (PHTS) research.
The Scholarly Awards Committee has selected Andrew Dhawan, MD, DPhil, a resident physician in the Department of Neurology at Cleveland Clinic, for this fellowship award. Dr. Dhawan’s project, entitled “Defining Neurological Phenotypes to Establish Clinical Guidelines in PHTS,” seeks to build upon a natural history registry of patients with PHTS by adding careful clinical annotation of neurological and neurodevelopmental findings. This data will help accelerate the creation of clinical consensus guidelines based on experience and evidence for the best practices in caring for patients with PHTS.
Dr. Dhawan’s project will include systematically reviewing the literature and datasets, including neurological findings, symptoms, and their management in patients with PHTS. The project will also expand the existing DSC PHTS datasets by contributing deep clinical neurological phenotyping. Using the extensive clinical data from the DSC, Dr. Dhawan will utilize big data analytics and mathematical modeling to create a precision medicine-worthy prediction tool based on neurological findings, PTEN genotypes, and outcomes.
The fellowship includes co-mentorship between the laboratories of Charis Eng, MD, PhD, (DSC Lead Principal Investigator for PHTS) and Jacob Scott, MD, DPhil, (mathematician) at Cleveland Clinic to provide Dr. Dhawan with the research environment and training he needs to launch an academic career in translational research beneficial to PHTS research and individuals living with PHTS.
This is a two-year fellowship funded by the PTEN Research Foundation, a UK-registered charity who funds and facilitates research that will lead to new and better treatment for PHTS. The Foundation’s work and supported projects bring together a global network of PHTS-focused experts and other key partners.
The Developmental Synaptopathies Consortium (DSC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). DSC is funded under grant number U54NS092090 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Mental Health (NIMH).