Research Training for Medical Geneticists at Mount Sinai School of Medicine

西奈山医学院医学遗传学家研究培训

• 批准号: 10426160
• 负责人: Robert J Desnick
• 金额: $ 43.92万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-07-01 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10426160
• 关键词: Medical; Research Training; medical schools

Project Summary This application seeks to continue the postdoctoral training grant titled, "Research Training Program for Medical Geneticists" for years 11-15. The program's overall goal is to: provide a mentored career development experience for physician-scientists to perform basic/translational research, develop the skills and experience required to compete for federal funding, and to become academic leaders in medical genetics/genomics. The program's emphasis is on basic, translational and/or clinical research using the latest techniques to investigate the pathogenesis of monogenic and complex traits, and to translate these findings into improved diagnosis, prevention, and effective therapies. The Department of Genetics and Genomic Sciences, with >100 full-time primary faculty, serves as the focus for the integration of genetics and genomics in all areas of medicine at Mount Sinai. The training environment builds upon considerable genetic/genomic, cell and molecular biologic, and clinical expertise of faculty in our basic science and clinical Departments and Institutes. Strengths of our training program include: 1) an exceptional group of funded and experienced Research Mentors in multidisciplinary research programs; 2) our ABMGG-accredited Medical Genetics training programs; 3) didactic courses in genomics and translational research including MS and PhD programs, and in the Responsible Conduct of Research, and 4) an infrastructure of Shared Research Facilities (SRFs) including our Institute for Genomics and Multiscale Biology. Physician-scientist trainees chosen for this training program typically will have completed a residency in Medical Genetics. Our Medical Genetics residency programs provide a pipeline of potential candidates who have a commitment to a basic/ translational research career. Highly qualified medical geneticist and physician- scientist applicants from other residency training programs and underrepresented minority candidates also will be recruited. Trainees will be supported for a period of 2 to 3 years under the supervision of their chosen Research Mentor, and each trainee will have an appropriate Advisory Committee. Previous trainees from this program have successfully obtained academic and industry positions and have applied for/received private agency and federal funding. All trainees will focus on their research projects and participate in our weekly work-in progress conference, weekly Genetics/Genomics seminar series, and may take selected didactic courses or an MS degree. This training program will meet a critical need for well-trained geneticists who can translate advances in genetics/genomics and biotechnology into improved diagnosis, treatment, and prevention of human disease.

项目摘要 该申请旨在继续题为“研究培训计划”的博士后培训补助金 医疗遗传学家”已有11 - 15年。该计划的总体目标是：提供指导的职业发展 医师科学家进行基础/翻译研究，发展技能和经验的经验 需要竞争联邦资金，并成为医学遗传学/基因组学的学术领导者。这 计划的重点是使用最新技术来调查基本，转化和/或临床研究 单基因和复杂性状的发病机理，并将这些发现转化为改进的诊断， 预防和有效的疗法。 遗传学和基因组科学系，拥有> 100个全职初级教师，作为 重点是在西奈山的所有医学领域整合遗传学和基因组学。培训 环境建立在相当大的遗传/基因组，细胞和分子生物学的基础上，以及的临床专业知识 我们的基础科学，临床部门和机构的教师。我们培训计划的优势包括： 1）在多学科研究计划中，一组杰出的资助和经验丰富的研究导师； 2）我们的ABMGG认可的医学遗传学培训计划； 3）基因组学的教学课程 转化研究包括MS和博士计划，以及负责任的研究以及4） 共享研究设施（SRF）的基础设施，包括我们的基因组学研究所 生物学。 为此培训计划选择的医师科学家学员通常将完成居住 医学遗传学。我们的医学遗传学居住计划提供了潜在候选人的管道 致力于基本/翻译研究职业。高素质的医学遗传学家和医师 - 其他居住培训计划和代表性少数候选人的科学家申请人也将 被招募。在所选的监督下，学员将获得2至3年的支持 研究导师和每个学员将有一个适当的咨询委员会。以前的学员 该计划成功地获得了学术和行业职位，并已申请/接收 私人机构和联邦资金。所有学员将专注于他们的研究项目，并参与我们的 每周工作进度会议，每周遗传学/基因组学研讨会系列，并可能选出 教学课程或MS学位。该培训计划将满足训练有素的遗传学家的关键需求 谁可以将遗传学/基因组学和生物技术的进步转化为改进的诊断，治疗， 和预防人类疾病。

项目成果

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.

• DOI: 10.1016/j.bcmd.2010.10.006
• 发表时间: 2011-01-15
• 期刊: Blood cells, molecules & diseases
• 作者: Rosenbloom B;Balwani M;Bronstein JM;Kolodny E;Sathe S;Gwosdow AR;Taylor JS;Cole JA;Zimran A;Weinreb NJ
• 通讯作者: Weinreb NJ

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

对德系犹太人群体进行全面的人群筛查，以发现复发性致病变异。

• DOI: 10.1111/cge.12834
• 发表时间: 2017
• 期刊: Clinical genetics
• 影响因子: 3.5
• 作者: Shi,L;Webb,BD;Birch,AH;Elkhoury,L;McCarthy,J;Cai,X;Oishi,K;Mehta,L;Diaz,GA;Edelmann,L;Kornreich,R
• 通讯作者: Kornreich,R

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

• DOI: 10.1002/humu.21327
• 发表时间: 2010-11
• 期刊: HUMAN MUTATION
• 影响因子: 3.9
• 作者: Scott, Stuart A.;Edelmann, Lisa;Liu, Liu;Luo, Minjie;Desnick, Robert J.;Kornreich, Ruth
• 通讯作者: Kornreich, Ruth

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

• DOI: 10.1080/17446651.2016.1239526
• 发表时间: 2016
• 期刊: Expert review of endocrinology & metabolism
• 影响因子: 3.2
• 作者: Chapel-Crespo CC;Diaz GA;Oishi K
• 通讯作者: Oishi K

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

• DOI: 10.1101/mcs.a002097
• 发表时间: 2017-11
• 期刊: Cold Spring Harbor molecular case studies
• 影响因子: 1.8
• 作者: Tanaka AJ;Cho MT;Willaert R;Retterer K;Zarate YA;Bosanko K;Stefans V;Oishi K;Williamson A;Wilson GN;Basinger A;Barbaro-Dieber T;Ortega L;Sorrentino S;Gabriel MK;Anderson IJ;Sacoto MJG;Schnur RE;Chung WK
• 通讯作者: Chung WK