The field of medicine is experiencing a genomics revolution. The need for physician scientists and investigators 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. Many will have M.D. degrees, others will be M.D.-Ph.D.'s 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 Perleman 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 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 CHOP/UPenn. Fields of research may encompass those areas that impact human genetics including, but not limited to: genomics, 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 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. !

Public Health Relevance

We are in the midst of a medical revolution at the center of which is genetics and genomics. This period in medical history will likely be known as the ?Genomics Era? and 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 and genomics. This training program will train future medical genetics leaders who are willing and able to apply modern research methods to elucidating the pathogenesis and pathophysiology of medical genetic conditions, as well as understanding how genetics and genomics will contribute to health maintenance through preventative care, so that new and more effective therapeutic interventions can be identified.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Institutional National Research Service Award (T32)
Project #
2T32GM008638-21
Application #
9207863
Study Section
Special Emphasis Panel (ZGM1)
Program Officer
Sledjeski, Darren D
Project Start
1997-07-01
Project End
2022-06-30
Budget Start
2017-07-01
Budget End
2018-06-30
Support Year
21
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
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

Showing the most recent 10 out of 79 publications