Career Enhancement Core

NIH RePORTER · NIH · U54 · $149,501 · view on reporter.nih.gov ↗

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. Th...

Key facts

NIH application ID
10480849
Project number
5U54NS115198-04
Recipient
MAYO CLINIC ROCHESTER
Principal Investigator
Laszlo Tamas Kozicz
Activity code
U54
Funding institute
NIH
Fiscal year
2022
Award amount
$149,501
Award type
5
Project period
2019-09-15 → 2024-07-31