The major goal of this research training program is to train the future leaders of medical genetics who will emerge from a variety of training pathways with varying amounts of research experience. Many will have M.D. degrees, others will be M.D.-Ph.D.'s with clinical training in Pediatrics, Medicine, Psychiatry, Pathology and other specialty areas will be eligible for support from this training grant. Combined pediatric-genetics residents will also be eligible during their 4th and 5th years of residency. Funding for 5 training slots per year is sought. The overall training program for these individuals consists of one clinical year during which the resident/fellow has a substantial clinical load and fulfills a portion of her/his didactic course work in human genetics and molecular biology. This first year is funded by the University of Pennsylvania School of Medicine 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 second year, the M.D. resident/fellow completes didactic course work and begins research training. During most of the second year and all of the third year and often the fourth years, the fellow devotes essentially 100% effort to research in a basic science laboratory. Research opportunities are extremely diverse with training in the laboratories of 43 Faculty from 6 core departments at Penn. Fields of research may encompass those areas that impact human genetics including, but not limited to: molecular genetics, cytogenomics, biochemical genetics, mitochondrial genetics, developmental biology, cellular biology, bioinformatics, systems biology, pharmacogenetics 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 5% 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.
We are in the midst of a medical revolution at the center of which is genetics. This underscores the need for intensive and high quality human genetic research training of clinicians (M.D. and M.D., Ph.D.) trained in Pediatrics, Medicine, Psychiatry, Pathology and other specialties. This research training program seeks to provide this training primarily to clinicians in all arenas relevant to human genetics to train the future medical genetics leaders who are willing and able to apply modern research methods to elucidating the pathogenesis and pathophysiology of medical genetic conditions, so that new and more effective therapeutic interventions can be identified.
|Huang, Lijia; Vanstone, Megan R; Hartley, Taila et al. (2016) Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat 37:148-54|
|Maxwell, Kara N; Hart, Steven N; Vijai, Joseph et al. (2016) Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet 98:801-17|
|Pyle, Louise C; Nathanson, Katherine L (2016) Genetic changes associated with testicular cancer susceptibility. Semin Oncol 43:575-581|
|Betensky, Marisol; Babushok, Daria; Roth, Jacquelyn J et al. (2016) Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet 209:1-10|
|Roth, Jacquelyn J; Fierst, Tamara M; Waanders, Angela J et al. (2016) Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. J Neuropathol Exp Neurol 75:306-15|
|Ahrens-Nicklas, Rebecca C; Pyle, Louise C; Ficicioglu, Can (2016) Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency. Genet Med :|
|Kalish, Jennifer M; Boodhansingh, Kara E; Bhatti, Tricia R et al. (2016) Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet 53:53-61|
|Babushok, Daria V; Perdigones, Nieves; Perin, Juan C et al. (2015) Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia. Cancer Genet 208:115-28|
|Sterling, Matthew E; Long, Christopher J; Bosse, Kristopher R et al. (2015) A rapid progression of disease after surgical excision of a malignant rhabdoid tumor of the bladder. Urology 85:664-6|
|Geller, James I; Roth, Jacquelyn J; Biegel, Jaclyn A (2015) Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog 20:199-216|
Showing the most recent 10 out of 49 publications