Medical Genetics Research Training Grant

医学遗传学研究培训补助金

• 批准号: 10622443
• 负责人: Rebecca Ganetzky
• 金额: $ 43.11万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-07-01 至 2027-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10622443
• 关键词: Grant; Medical Genetics; Research Training

The field of medicine is experiencing a genomics revolution. The need to train physician scientists and investigators of diverse backgrounds experienced in genomic and genetic methodologies and able to translate basic science discoveries in genomics into clinical care has never been greater. The major goal of this postdoctoral research training program is to train the future leaders of Medical Genetics and Genomics who will emerge from a variety of training pathways with varying amounts of research experience. Postdoctoral trainees with M.D. or M.D., Ph.D. degrees with clinical training in Medical Genetics, Pediatrics, Medicine, Psychiatry, Pathology, and other specialty areas will be eligible for support from this training grant. Funding for 5 training slots per year is sought. The clinical training years (typically year 1 for Categorical Medical Genetics trainees and years 1-3 for combined Pediatric and Medical Genetics trainees) is funded by the Perelman School of Medicine at the University of Pennsylvania (UPenn) and The Children’s Hospital of Philadelphia (CHOP), while funds for the research years of the overall training program are sought from this training grant. During the Medical Genetics Research Fellowship years supported by this Training Grant, the fellow devotes a minimum of 85% effort to research in a basic science laboratory. Research opportunities are extremely diverse with training in the laboratories of 42 Faculty from 6 core departments at CHOP/UPenn. Fields of research may encompass those areas that impact human genetics including, but not limited to: genomics, molecular genetics, cytogenomics, biochemical genetics, epigenetics, mitochondrial genetics, developmental biology, cellular biology, bioinformatics, systems biology, pharmacogenetics, gene therapy and others. During the research years, the trainee also takes seminar courses, attends journal clubs, research meetings, and departmental research retreats, and carries out minimal clinical activities, not to exceed 15% effort. Training stipends for the 2-3 years of research are requested in this application. The M.D. trainee will likely require further research training (not covered by this training grant), which might be acquired through an additional postdoctoral research experience or a protected faculty appointment with considerable mentoring from a senior faculty member. The training program outlined in this proposal is built on our past rack record of success and is committed to recruiting a diverse group of highly talented postdoctoral trainees to a rich and supportive research environment and through a rigorous program of training, mentorship and oversight develop the future physician-scientist leaders in Medical Genetics and Genomics.

医学领域正在经历一场基因组学革命。需要培养医生科学家， 不同背景的研究人员在基因组和遗传方法学方面经验丰富，能够翻译 基因组学的基础科学发现应用于临床护理的规模空前。这个项目的主要目标是 博士后研究培训计划是培养医学遗传学和基因组学的未来领导者谁 将从各种各样的培训途径中脱颖而出，具有不同数量的研究经验。博士后 医学博士实习生或者医学博士博士医学遗传学、儿科学、医学、 精神病学，病理学和其他专业领域将有资格获得此培训补助金的支持。资金 每年争取5个培训名额。临床培训年限（分类医学遗传学通常为1年 培训生和1-3年的儿科和医学遗传学培训生）由佩雷尔曼资助 宾夕法尼亚大学医学院和费城儿童医院 （CHOP），而整个培训计划的研究年的资金则来自该培训补助金。 在此培训补助金支持的医学遗传学研究奖学金期间，该研究员致力于 至少85%的精力用于基础科学实验室的研究。研究机会极其多样 在CHOP/UPenn的6个核心部门的42名教师的实验室进行培训。研究领域可能 包括那些影响人类遗传学的领域，包括但不限于：基因组学，分子生物学， 遗传学，细胞基因组学，生化遗传学，表观遗传学，线粒体遗传学，发育生物学， 细胞生物学、生物信息学、系统生物学、药物遗传学、基因治疗等。期间 研究年，受训者还参加研讨会课程，参加期刊俱乐部，研究会议， 部门研究撤退，并进行最低限度的临床活动，不超过15%的努力。培训 本申请要求提供2-3年的研究津贴。医学博士学员可能需要 进一步的研究培训（不包括在本培训补助金范围内），可通过额外的 博士后研究经验或受保护的教师任命与相当多的指导，从高级 教员。本建议书中概述的培训计划是建立在我们过去成功的记录之上的， 致力于招募一批多元化的高素质博士后培训生，以丰富和支持 研究环境，并通过严格的培训计划，指导和监督发展的未来 医学遗传学和基因组学领域的医学科学家领导者。

项目成果

Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.

• DOI: 10.1111/bpa.12167
• 发表时间: 2015-03
• 期刊: Brain pathology (Zurich, Switzerland)
• 作者: Roth JJ;Santi M;Pollock AN;Harding BN;Rorke-Adams LB;Tooke LS;Biegel JA
• 通讯作者: Biegel JA

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

• DOI: 10.1002/ajmg.a.62215
• 发表时间: 2021-07
• 期刊: American journal of medical genetics. Part A
• 作者: Strong A;O'Grady G;Shih E;Bishop JR;Loomes K;Diamond T;Hartung EA;Wong W;Cuddapah S;Cahill AM;Hou C;Slater D;Vaccaro C;Watson D;Li D;Hakonarson H
• 通讯作者: Hakonarson H

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

• DOI: 10.1002/ajmg.a.62537
• 发表时间: 2022-03
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Strong, Alanna;March, Michael E.;Cardinale, Christopher J.;Kim, Sophia E.;Merves, Jamie;Whitworth, Hilary;Raffini, Leslie;Larosa, Christopher;Copelovitch, Lawrence;Hou, Cuiping;Slater, Diana;Vaccaro, Courtney;Watson, Deborah;Zackai, Elaine H.;Billheimer, Jeffrey;Hakonarson, Hakon
• 通讯作者: Hakonarson, Hakon

Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency.

• DOI: 10.1097/mpg.0000000000003453
• 发表时间: 2022-06-01
• 期刊: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
• 影响因子: 2.9
• 作者: Strong, Alanna;Ficicioglu, Can
• 通讯作者: Ficicioglu, Can

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.

• DOI: 10.1002/ajmg.a.62337
• 发表时间: 2021-08
• 期刊: American journal of medical genetics. Part A
• 作者: Strong A;Simone L;Krentz A;Vaccaro C;Watson D;Ron H;Kalish JM;Pedro HF;Zackai EH;Hakonarson H
• 通讯作者: Hakonarson H