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.
|Byrnes, James; Ganetzky, Rebecca; Lightfoot, Richard et al. (2018) Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish. Neurochem Int 117:23-34|
|Murali, Chaya N; Keena, Beth; Zackai, Elaine H (2018) Robinow syndrome: a diagnosis at the fingertips. Clin Dysmorphol 27:135-137|
|Ganetzky, Rebecca D; Falk, Marni J (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab 123:301-308|
|Pinz, Hailey; Pyle, Louise C; Li, Dong et al. (2018) De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Am J Med Genet A 176:969-972|
|Mucha, Bettina E; Hashiguchi, Megumi; Zinski, Joseph et al. (2018) Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish. Bone 109:225-231|
|Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth et al. (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-3312|
|Ahrens-Nicklas, Rebecca C; Ganetzky, Rebecca D; Rush, Peggy W et al. (2018) Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. J Inherit Metab Dis :|
|Iwata-Otsubo, Aiko; Ritter, Alyssa L; Weckselbatt, Brooke et al. (2018) DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. Am J Med Genet A 176:241-245|
|Chapman, Kimberly A; Ostrovsky, Julian; Rao, Meera et al. (2018) Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. J Inherit Metab Dis 41:157-168|
|Ahrens-Nicklas, Rebecca; Schlotawa, Lars; Ballabio, Andrea et al. (2018) Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab 123:337-346|
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