Molecular Genetics of Melanoma

 描述（由申请人提供）：黑色素瘤分子遗传学的K24更新申请是候选人先前K24资助的扩展，通过下一代测序和快速增长的分子治疗领域，在患者风险预测方面进行了更大的科学和指导投资。K24的前五年有助于为候选人提供受保护的时间，以培训研究人员进行以患者为导向的研究。他的研究结果导致了第一个贝叶斯-孟德尔黑色素瘤风险预测模型（MelaPRO），并描述了黑色素瘤易感家族中的新型MITF和BAP 1突变。候选人能够指导19人，发表52篇手稿，并成功竞争超过280万美元的同行评审赠款。自2010年首次获得K24奖项以来，大规模并行测序技术已变得司空见惯，基因组医学正在患者的床边部署。K24的更新旨在利用精准医学的力量，更全面地分析黑色素瘤风险，并利用新发现的分子驱动因素来改善黑色素瘤治疗。科学扩展建立在候选人的长期经验与患者为导向的遗传学研究，并为他提供了机会，指导学员在新的跨学科研究领域。候选人与MGH分析转化遗传学单位/布罗德研究所和MGH癌症中心/Henri和Belinda Termeer靶向治疗中心的研究人员之间已经存在的紧密的多学科合作将允许（i）指导和招募不相关领域的受训人员进入以患者为导向的研究的新机会，（i）接触患者和患者来源的材料进行分析，（三）明确的基础设施， （iv）候选人目前没有的新资助范畴。该奖项还将使候选人能够开发新的专业领域，编纂新的指导方法，并在以患者为导向的研究中采取新的方向。

 DESCRIPTION (provided by applicant): This K24 renewal application for Molecular Genetics of Melanoma is an expansion of the candidate's previous K24 grant with greater scientific and mentorship investment in patient risk prediction through Next Generation sequencing and in the rapidly growing area of molecular therapeutics. The first five years of this K24 was instrumental in providing the candidate protected time to train investigators in patient-oriented research. The results of his research led to the first Bayes-Mendel risk prediction model in melanoma (MelaPRO) and the description of novel MITF and BAP1 mutations in melanoma-prone families. The candidate was able to mentor 19 individuals, publish 52 manuscripts and successfully compete for over $2.8 million in peer-reviewed grants. Since the initial K24 award in 2010, massive parallel sequencing technologies have become commonplace and genomic medicine is being deployed at the patient's bedside. This K24 renewal proposes to exploit the power of precision medicine to more comprehensively profile melanoma risk and to capitalize on newly-discovered molecular drivers to improve melanoma therapeutics. The scientific expansion builds upon the candidate's long-time experience with patient- oriented genetics investigation and affords him the opportunity to mentor trainees in new areas of interdisciplinary research. The tightly-woven multidisciplinary collaborations which already exist between the candidate and investigators at the MGH Analytic Translational Genetics Unit/Broad Institute and the MGH Cancer Center/Henri and Belinda Termeer Center for Targeted Therapies will allow for (i) new opportunities to mentor and recruit trainees in unrelated fields into patient-oriented research, (i) access to patients and patient-derived material for analysis, (iii) well-defined infrastructures to carry out the proposed studies and (iv) new areas of funding not currently in the candidate's portfolio. This award will also enable the candidate to develop new areas of expertise, to codify new approaches to mentorship and to take on new directions in patient-oriented research.