Career Enhancement

Project Summary: Career Enhancement Core Over the past ten years, the DSC has made significant contributions to understanding the impact of genetic variation on neurobehavioral profiles in individuals with autism spectrum disorder (ASD) and intellectual disability (ID). By focusing on rare genetic syndromes such as Tuberous Sclerosis Complex (TSC), PTEN Hamartoma Tumor Syndrome (PHTS), and Phelan-McDermid Syndrome (PMS), our work has led to a deep understanding of the disease trajectory, setting the stage for clinical trials. However, we recognize that similar work in other rare genetic syndromes associated with ASD and ID has not translated into effective treatments. Several barriers have been identified, including a shortage of well-trained translational researchers with expertise in clinical trial development and poor integration of patient perspectives early in the research process. Incorporating patient perspectives in the development of new treatments has been increasingly recognized as critical by regulatory agencies. The Career Enhancement Core aims to enhance clinical trial readiness by incorporating training in Community-Based Participatory Research (CBPR) methods and prioritizing patient perspectives in the training of young investigators. CBPR emphasizes collaboration between researchers and community members, ensuring that research priorities align with patient and family needs. Training investigators in CBPR approaches will enable them to engage effectively with communities, prioritize patient perspectives, enhance clinical trial readiness, and improve the relevance and impact of translational research. The Career Enhancement Core will be directed by two experienced physician scientists (Elizabeth Berry-Kravis, MD, PhD from Rush University and Pilar Trelles, MD from Boston Children’s Hospital). To date, the Developmental Synaptopathies Consortium (DSC) has contributed to the training of 12 junior investigators at the DSC sites, with backgrounds in pediatric neurology and psychiatry, genetic counseling, medical oncology, medical genetics and clinical psychology. Building on this success, we propose to enhance our DSC fellows training program by incorporating the following features: 1) Young Investigator Awards for each of the 4 disorders, in partnership with the PAGs; 2) training in CBPR to increase community engagement skills and foster bi-directional perspectives on rare neurogenetic disorder research; and 3) immersion programs in which a YIA awardee can visit a DSC site to be mentored and observe directly how to carry out clinical trials of genetic NDDs targeted to the disease mechanism. The overarching goal of this project is to build a cadre of researchers adept in both scientific inquiry and community engagement. Our central hypothesis is that enhancing CBPR knowledge among translational researchers will improve the impact of translational research by better aligning with patient priorities and enhancing collaboration among stakeholders.