Career Enhancement Core

Mayo Clinic Rochester, Rochester MN

Investigators

Linked publications & trials

Abstract

CAREER ENHANCEMENT PROGRAM – PROJECT SUMMARY/ABSTRACT The community of Congenital Disorders of Glycosylation (CDG) has identified genetic and biologic alterations in 130+ different CDGs with overall incidence of ~>1:100 000. Nevertheless, thirty years later, we have no disease natural history data, no comprehensive patient registry, no reliable screening for many CDG types, and almost no therapy. More importantly, awareness for this ultra- rare group of inborn errors of metabolism is desirable in clinical practice to relieve the burden of disease from our patients and their families. A greater number of superbly trained new CDG clinicians and biochemists are desperately needed. This is the challenge presented by our patients. The Frontiers in Congenital Disorders of Glycosylation (FCDG) Consortium in close collaboration with the patient advocacy group of CDG-CARE (CDG-Community Alliance and Resource Exchange) expresses its strong commitment to contribute knowledgeable and well- trained medical professionals (c.q. clinical experts, dieticians) and investigators experienced in multidisciplinary clinical care and research in, and informed of the public health importance of, CDGs. A critical part of this process is to increase the quality and depth of clinical and biochemical experts in CDG. The FCDG CEC's premise is that such medical professionals and clinical investigators will advance and significantly impact the overall quality of life and health of children, youth and adults with CDG. An equally critical benefit of this process will be to increase in the number of CDG research scientists and biochemists moving the field of CDG research and diagnostics forward from its current state. To meet this objective, the FCDG CEC will comprise the following components: 1) a stringent candidate selection system; 2) prescribed training and education to facilitate life-long learning; 3) comprehensive guidance by a group of clinical and biochemical experts with extensive experience as mentors; d) facilitate collaboration with clinical experts and investigators within the consortium; and e) a strong commitment to the recruitment of qualified minority individuals, women, and persons with disabilities into our educational programs. A Center for Individualized Medicine (CIM), Departments of Laboratory Medicine and Pathology (DLMP) and Clinical Genomics with the support of the Center for Clinical and Translational Science (CCaTS) as well as the Office of Research Postgraduate Affairs (ORPA) at Mayo clinic strengthened by the comprehensive educational and training programs at our consortium sites will provide institutional infrastructures to all NIH-funded training and education mechanisms including this CEC. Thus, each FCDG CEC awardee can capitalize on numerous, relevant strengths present within the Consortium. Outstanding applicants will be aggressively recruited with efforts especially directed toward identifying individuals from underrepresented populations. The Mayo Clinic Office for of Diversity and Inclusion (ODI) will be fully engaged. Each project year, the FCDG CEC will provide up to $50,000 for one year ($25,000 from SPORE funds and a matching $25,000 from CIM and DLMP) for each of two awards. A second year of support is possible, based on progress. Ideally, the proposed training or educational program will embody important “growth” areas within CDGs and for the overall FCDG Consortium goals. This mechanism will allow us to allow us to identify, mentor, and support young medical professionals as well as biochemical geneticists who will become future leaders in CDG care and research. Dr Tamas Kozicz will act as FCDG CEC director.