ROAR Career Enhancement Core

ABSTRACT – CAREER ENHANCEMENT CORE With early recognition through expanded newborn screening and advances in management leading to improved outcomes and survival, the number of children and adults with inborn errors of metabolism, particularly organic acidemias, continues to grow. Despite the increased need, the number of physicians and other medical providers with clinical and research expertise in inborn errors of metabolism is limited. According to statistics from the American Board of Medical Genetics and Genomics, 10 U.S. states have no physicians with advanced training in inborn errors of metabolism (i.e. certification in either medical or clinical biochemical genetics). This lack of physician providers with expertise in metabolic disorders impacts the delivery of acute and chronic care for patients with these diagnoses. Likewise, this lack of physician-researchers with a focus on metabolic disease impacts the design and implementation of clinical trials for these rare disorders and limits the participation of some individuals with inborn errors of metabolism in these trials due to lack of access to them. Moreover, a recent constituent survey conducted by the Organic Acidemias Association and Propionic Acidemia Foundation identified “access to care” as the top concern across all disorders. To address these significant gaps, the Rare Organic Acidemias Research (ROAR) consortium Career Enhancement Core (CEC) will develop a comprehensive strategy for recruiting and retaining a cohort of physicians and physician-researchers with clinical and research expertise in rare metabolic disorders, specifically organic acidemias. The strategy of the ROAR CEC will integrate early exposure to the field of inborn errors of metabolism for predoctoral trainees with more advanced research training and career development activities that facilitate the recruitment and retention of postdoctoral trainees and junior faculty in the field of inborn errors of metabolism. Both predoctoral and postdoctoral trainees will be fully integrated into the consortium and receive one-on-one mentoring, participate in monthly consortium meetings, attend the annual consortium in-person meeting, attend patient advocacy group meetings, and present their research in these settings as well as at the RDCRN steering committee meetings. Moreover, the training will be personally tailored to each trainee’s academic level and career goals. The ROAR CEC will achieve these training goals with the following specific aims: 1) Introduce predoctoral level trainees to careers in rare disease clinical research and clinical care with a particular focus on inborn errors of metabolism. 2) Train postdoctoral level trainees for careers in rare disease clinical research and clinical care with a focus on inborn errors of metabolism and 3) Implement a strategy to recruit a cohort of trainees from institutions that do not have medical genetics or inborn errors of metabolism expertise to improve access to care.