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，需要培训医生和科学家。 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，并且能够翻译 将基因组学的基础科学发现转化为临床护理是我们的主要目标。 博士后科研培养项目旨在培养未来医学遗传学和基因组学领域的领军人才 将通过各种培训途径获得不同程度的研究经验。 拥有医学博士或医学博士、博士学位并接受过医学遗传学、儿科、医学、 精神病学、病理学和其他专业领域将有资格获得该培训补助金的支持。 每年寻求 5 个培训名额 临床培训年限（典型为分类医学遗传学的第 1 年）。 培训生以及儿科和医学遗传学联合培训生的 1-3 年）由 Perelman 资助 宾夕法尼亚大学 (UPenn) 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从该培训补助金中寻求。 在本次培训补助金支持的医学遗传学研究奖学金期间，其他奉献者 至少 85% 的努力用于基础科学实验室的研究 研究机会极其多样化。 在 CHOP/宾夕法尼亚大学 6 个核心院系的 42 名教员的实验室接受过培训。 涵盖影响人类遗传学的领域，包括但不限于：基因组学、分子学 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。 研究年，受训者还参加研讨会课程、参加期刊俱乐部、研究会议和 部门研究撤退，并进行最少的临床活动，不超过培训工作量的 15%。 此申请中要求医学博士实习生可能需要 2-3 年的研究津贴。 进一步的研究培训（本培训补助金不包括在内），可以通过额外的项目获得 博士后研究经验或受保护的教职任命，并得到资深人士的大量指导 本提案中概述的培训计划是建立在我们过去的成功记录的基础上的。 致力于招募多元化的高素质博士后培训生，以提供丰富且支持性的支持 研究环境并通过严格的培训、指导和监督计划开发未来 医学遗传学和基因组学领域的医师科学家领导者。

项目成果

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

由 GALNT2 功能丧失引起的新型先天性 O-连接糖基化疾病。

• DOI: 10.1093/brain/awaa063
• 发表时间: 2020-04-01
• 期刊: Brain : a journal of neurology
• 作者: M. Zilmer;Andrew C. Edmondson;Sumeet A. Khetarpal;V. Alesi;M. Zaki;K. Rostásy;C. Madsen;F. Lepri;L. Sinibaldi;R. Cusmai;A. Novelli;M. Issa;C. Fenger;R. Abou Jamra;H. Reutter;S. Briuglia;E. Agolini;L. Hansen;U. Petäjä;J. Hintze;K. Raymond;Kris Liedtke;Valentina Stanley;D. Musaev;J. Gleeson;C. Vitali;W. T. O'Brien;E. Gardella;G. Rubboli;D. Rader;Katrine T. Schjoldager;R. Møller
• 通讯作者: R. Møller

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

中链酰基辅酶A脱氢酶缺乏症纯母乳喂养新生儿的发病率和死亡率。

• 发表时间: 2016
• 作者: Ahrens;Pyle, Louise C;Ficicioglu, Can
• 通讯作者: Ficicioglu, Can

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.

gnomAD 中可治疗儿科疾病等位基因的频率较低：未来新生儿基因组筛查的机会。

• 发表时间: 2022-01-13
• 作者: Gold, Nina B;Harrison, Steven M;Rowe, Jared H;Gold, Jessica;Furutani, Elissa;Biffi, Alessandra;Duncan, Christine N;Shimamura, Akiko;Lehmann, Leslie E;Green, Robert C
• 通讯作者: Green, Robert C

Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review.

患有遗传性代谢紊乱的女性的避孕方法：回顾性研究和文献综述。

• 发表时间: 2022-02-08
• 作者: Gold, Jessica I;Gold, Nina B;DeLeon, Diva D;Ganetzky, Rebecca
• 通讯作者: Ganetzky, Rebecca

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

PHF8 的变异体会导致一系列 X 连锁神经发育障碍和面部畸形。

• 发表时间: 2022-07-14
• 作者: Sobering, Andrew K;Bryant, Laura M;Li, Dong;McGaughran, Julie;Maystadt, Isabelle;Moortgat, Stephanie;Graham Jr, John M;van Haeringen, Arie;Ruivenkamp, Claudia;Cuperus, Roos;Vogt, Julie;Morton, Jenny;Brasch;Steenhof, Maria
• 通讯作者: Steenhof, Maria