Career Enhancement Core

职业提升核心

• 批准号: 10017357
• 负责人: Laszlo Tamas Kozicz
• 金额: $ 14.95万
• 依托单位: MAYO CLINIC ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-15 至 2024-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10017357
• 关键词: Achievement; Adult; Advisory Committees; Affect; Applications Grants; Aptitude; Area; Award; Awareness; Biochemical; Biochemical Genetics; Biological; Biometry; Caring; Child; Child Health; Clinic; Clinical; Clinical Investigator; Clinical Research; Clinical Sciences; Collaborations; Communities; Congenital disorders of glycosylation; Data; Department chair; Development; Diagnostic; Diagnostics Research; Disabled Persons; Doctor of Philosophy; Environment; Extramural Activities; Family; Funding; Future; Genetic; Genomics; Goals; Grant; Growth; Head; Health; Inborn Errors of Metabolism; Incidence; Individual; Infrastructure; Institution; Laboratories; Leadership; Letters; Medical; Medicine; Mentors; Mentorship; Minority; Monitor; Outcome; Pathology; Patients; Policies; Postdoctoral Fellow; Procedures; Process; Public Health; Quality of life; Reporting; Research; Research Personnel; Resources; Role; Scientist; Site; Structure; System; Teleconferences; Training; Training Programs; Training and Education; Translational Research; Underrepresented Populations; United States National Institutes of Health; Woman; Work; base; biomarker discovery; burden of illness; candidate selection; career; career development; clinical care; clinical center; clinical practice; diagnostic biomarker; disease natural history; expectation; experience; frontier; individualized medicine; interest; life-long learning; medical specialties; member; multidisciplinary; patient advocacy group; patient registry; programs; recruit; screening; skills; success; translational research program

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.

职业增强计划 - 项目摘要/摘要 糖基化（CDG）的先天性疾病疾病社区（CDG）已经鉴定了遗传和生物学 130多种不同CDG的改变，总体刺激性为〜> 1：100 000。 后来，我们没有疾病自然史数据，没有全面的患者注册表，没有可靠的 筛选许多CDG类型，几乎没有治疗。 在临床实践中，需要罕见的天生新陈代谢错误，以减轻 来自我们患者及其家人的疾病。 迫切需要临床医生和生物化学家。 患者。 糖基化先天性疾病（FCDG）财团的边界近距离 与CDG-CARE的患者倡导小组合作（CDG社区联盟和 资源交换）表示其坚定的承诺，致力于知识渊博 受过培训的医疗专业人员（C.Q.临床专家，营养师）和研究人员经历了 多学科的临床护理和信息健康。 CDG。 CDG的生化专家。 临床研究人员将进步并显着影响生命和健康的整体性 CDG的儿童，青年和成年人将是该过程的同等关键好处 CDG研究科学家和生物化学家的数量增加了CDG领域 研究和诊断从当前状态进行。 为了满足此目标，FCDG CEC将包括以下组件：1）严格 候选人选择系统； 3）一组临床和生化专家的全面指导 作为导师的经验； 财团和e）对合格少数族裔的招募做出的坚定承诺 妇女和对我们的教育计划的人不喜欢的人。 个性化医学的中心（CIM），实验室医学部门 病理（DLMP）和临床基因组学在临床中心的支持下 翻译科学（CCAT）以及研究研究生事务办公室（ORPA） 在Mayo诊所，通过我们的综合教育和培训计划加强了 财团站点将为所有由NIH资助的培训提供指导， 包括此CEC在内的教育机制。 财团内有许多相关的优势。 杰出申请人将被招募积极进取，特别针对 从代表性不足的人诊所中识别个人。 多样性和包容性（ODI）将充分参与。 提供一年最高$ 50,000（从孢子资金中提供25,000美元，与款项相匹配的$ 25,000 CIM和DLMP）是两个奖项中的每个奖项。 进步。 CDG中的领域和整体FCDG联盟目标。 使我们能够识别，指导和支持年轻的医学专业人员以及生化 将成为CDG护理和研究的未来领导者的遗传学家。 担任FCDG CEC主管。