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. Many will have M.D. degrees;other will be M.D./Ph.D.s with clinical training in Pediatrics, Medicine, Psychiatry, Pathology and other specialty areas who will be eligible for support from this training grant. Combined Pediatrics-Genetics residents will also be eligible during their 4th and 5th years of residency. The overall training program for these individuals consists of one clinical year during which the 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. 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 39 faculty from 14 departments at Penn. 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 these two to three years are requested in the application. The M.D. trainee will likely require further research training (not covered by this training grant), which might be another postdoctoral research experience or a protected faculty appointment with considerable mentoring from a senior faculty member. This grant will fund up to three research years of the M.D. investigator in medical genetics, and two years for M.D./Ph.D. fellows.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Institutional National Research Service Award (T32)
Project #
5T32GM008638-14
Application #
7878120
Study Section
Special Emphasis Panel (ZGM1-BRT-5 (PG))
Program Officer
Haynes, Susan R
Project Start
1997-07-01
Project End
2012-06-30
Budget Start
2010-07-01
Budget End
2011-06-30
Support Year
14
Fiscal Year
2010
Total Cost
$304,147
Indirect Cost
Name
University of Pennsylvania
Department
Genetics
Type
Schools of Medicine
DUNS #
042250712
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
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
Zolkipli-Cunningham, Zarazuela; Xiao, Rui; Stoddart, Amy et al. (2018) Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS One 13:e0197513
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

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