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.

Public Health Relevance

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.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Institutional National Research Service Award (T32)
Project #
Application #
Study Section
Special Emphasis Panel (ZGM1-BRT-5 (PD))
Program Officer
Haynes, Susan R
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Children's Hospital of Philadelphia
United States
Zip Code
Roth, Jacquelyn J; Santi, Mariarita; Pollock, Avrum N et al. (2015) Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas. Brain Pathol 25:182-92
Maxwell, Kara N; Wubbenhorst, Bradley; D'Andrea, Kurt et al. (2015) Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med 17:630-8
Herriges, Michael J; Swarr, Daniel T; Morley, Michael P et al. (2014) Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development. Genes Dev 28:1363-79
Roth, Jacquelyn J; Santi, Mariarita; Rorke-Adams, Lucy B et al. (2014) Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors. Cancer Genet 207:111-23
Babushok, Daria V; Xie, Hongbo M; Roth, Jacquelyn J et al. (2014) Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol 164:73-82
Wenger, T L; Gerdes, J; Taub, K et al. (2014) Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit. J Perinatol 34:234-40
Tsai, Ellen A; Berman, Micah A; Conlin, Laura K et al. (2013) PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A 161A:2134-47
Kalish, Jennifer M; Conlin, Laura K; Mostoufi-Moab, Sogol et al. (2013) Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A 161A:993-1001
Schrier, Samantha A; Sherer, Ilana; Deardorff, Matthew A et al. (2011) Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A 155A:3007-24
An Haack, Kristina; Narayan, Srinivas B; Li, Haying et al. (2011) Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers. Biochim Biophys Acta 1810:186-91

Showing the most recent 10 out of 24 publications