The overall objective of the proposed Child Research Center at the Mount Sinai School of Medicine is to provide selected Young Pediatric Investigators an intellectual environment and core laboratory facilities to develop basic science research programs with a molecular genetics theme that will facilitate their career development as independent physician- investigators. Under the direction of the Principal Investigator and Program Director, a group of Established Investigators from the Departments of Pediatrics, Biochemistry, Biomathematics, Cell Biology and Anatomy, Molecular Biology and Neurobiology will provide basic science research opportunities for the Young Pediatric Investigator which have relevance to pediatric medicine and provide model systems for future independent research projects. Among these are research opportunities in: 1) molecular genetics of lysosomal storage diseases, 2) tissue-specific gene regulation of globin and heme as well as studies of the inherited porphyrias, 3) molecular studies of peroxisomal assembly and peroxisomal disorders, 4) molecular approaches to the development of new vaccines, 5) molecular studies of development by insertional mutagenesis in transgenic mice, 6) use of homologous recombination to generate murine models of human inherited disorders and developmental defects, 7) linkage and reverse- genetic studies to identify the gene for juvenile myoclonic epilepsy, 8) studies of hormonally-responsive gene expression, 9) molecular genetics of collagens in growth and development, 10) molecular studies of autoimmunity, and 11) development of gene therapy in animal model systems. A shared core laboratory will provide oligonucleotide synthesis, PCR, gene mapping and tissue culture services to facilitate young investigator research; the core laboratory will be cost effective and the Co-Directors will provide expertise for these and other molecular and cell biologic techniques. High-quality, newly-trained pediatricians will be recruited for this program from local and national pools and the Advisory Committee will make awards to the Center Pediatric Scientist and/or the Junior Pediatric Investigators. The Young Pediatric Investigators and the Established Investigators will participate in a weekly """"""""Molecular Genetics"""""""" Journal Club and in biweekly research presentations. This center of excellence will provide the intellectual environment and core laboratory facilities to enhance the development of pediatric investigators who will become independent and apply their expertise in molecular genetics to current and future problems in pediatric medicine. Moreover, support of this program will enhance the development of research activities in the Department of Pediatrics and will provide important scientific and intellectual resources for the continued development of basic and clinical science in the Mount Sinai School of Medicine.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
5P30HD028822-02
Application #
3103151
Study Section
Special Emphasis Panel (SRC (04))
Project Start
1991-09-30
Project End
1996-08-31
Budget Start
1992-09-01
Budget End
1993-08-31
Support Year
2
Fiscal Year
1992
Total Cost
Indirect Cost
Name
Mount Sinai School of Medicine
Department
Type
Schools of Medicine
DUNS #
City
New York
State
NY
Country
United States
Zip Code
10029
Bishop, David F; Schneider-Yin, Xiaoye; Clavero, Sonia et al. (2010) Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood 115:1062-9
Wasserstein, M P; Snyderman, S E; Sansaricq, C et al. (2006) Cerebral glucose metabolism in adults with early treated classic phenylketonuria. Mol Genet Metab 87:272-7
Magage, Sudheera; Linhart, Ales; Bultas, Jan et al. (2005) Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. Echocardiography 22:333-9
Thurberg, Beth L; Randolph Byers, H; Granter, Scott R et al. (2004) Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies. J Invest Dermatol 122:900-8
Meehan, Shane M; Junsanto, Tipsuda; Rydel, James J et al. (2004) Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am J Kidney Dis 43:164-71
Glass, Ronald B J; Astrin, Kenneth H; Norton, Karen I et al. (2004) Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr 28:158-68
Durham, John H C; Desnick, Robert J; Imbriano, Louis et al. (2004) Prolonged postpartum proteinuria after early preeclampsia. Am J Kidney Dis 43:186-91
Reeves, Helen L; Narla, Goutham; Ogunbiyi, Olagunju et al. (2004) Kruppel-like factor 6 (KLF6) is a tumor-suppressor gene frequently inactivated in colorectal cancer. Gastroenterology 126:1090-103
Victor, S; Coulter, J B S; Besley, G T N et al. (2003) Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis 26:775-85
Miller, A; Brown, L K; Pastores, G M et al. (2003) Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet 63:368-76

Showing the most recent 10 out of 126 publications