This is an application for continued support for years 26-30 of a postdoctoral training program in genetics based in the Department of Molecular and Human Genetics (DMHG). The DMHG is a bridging department with major clinical activities and strong programs in basic science research but the emphasis of this postdoctoral program is on medical and human genetics and on molecular approaches. There are 65 training faculty, 40 with primary and 25 with secondary appointments in the DMHG. Dr. Beaudet has served as Program Director for many years except for a brief hiatus and is currently Chair of the DMHG. Major research areas in the Program include cloning human disease genes, mutation analysis, molecular diagnostics, molecular cytogenetics, biochemical studies of inborn errors of metabolism, genomic imprinting, molecular basis of dysmorphology syndromes, somatic gene therapy, cloning mouse genes, developmental biology in the mouse, gene targeting in the mouse, genetic control of morphogenesis and development in Drosophila, development of new technologies for mouse genetics, control of cell cycle, function of chromosomal telomeres, bacterial recombination, genomic sequencing, and genetics of neurological disorders. Trainees include MD or MD/Ph.D. candidates seeking combined clinical and research training or seeking strictly research training, trainees of various degrees seeking combined laboratory diagnostic and research training, and Ph.D. trainees seeking primarily research training in human or nonhuman genetics. The MD trainees generally have completed primary training in pediatrics or medicine, and Ph.D. trainees most often come directly from completion of graduate school. A major focus of the program is to attract highly qualified MD and MD/Ph.D. trainees who seek clinical training but are also seeking an intensive and substantial research experience. Major strengths of the training environment include a large clinical genetics component; large and sophisticated diagnostic laboratories in cytogenetics, biochemical genetics, and molecular genetics; 60,000 sq. ft. of DMHG space in the basic science building; strong institutional commitment; a genetic graduate student program with relevant course work; an American Board of Medical Genetics (ABMG) certified training program; a high national ranking for research funding; a large program in human genomic sequencing; an NIH funded Mental Retardation Research Center; and overall depth in molecular genetics.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Institutional National Research Service Award (T32)
Project #
5T32GM007526-27
Application #
6769978
Study Section
Special Emphasis Panel (ZGM1-BRT-2 (PD))
Program Officer
Rhoades, Marcus M
Project Start
1978-09-30
Project End
2008-06-30
Budget Start
2004-07-01
Budget End
2005-06-30
Support Year
27
Fiscal Year
2004
Total Cost
$345,270
Indirect Cost
Name
Baylor College of Medicine
Department
Genetics
Type
Schools of Medicine
DUNS #
051113330
City
Houston
State
TX
Country
United States
Zip Code
77030
Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
Nagamani, Sandesh C S; Agarwal, Umang; Tam, Allison et al. (2018) A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med 20:708-716
Wiszniewski, Wojciech; Gawlinski, Pawel; Gambin, Tomasz et al. (2018) Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26:1121-1131
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Tam, Allison; Chen, Shan; Schauer, Evan et al. (2018) A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet 94:502-511
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Posey, Jennifer E; Harel, Tamar; Liu, Pengfei et al. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376:21-31
Bostwick, Bret L; McLean, Scott; Posey, Jennifer E et al. (2017) Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med 9:73
Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Harel, Tamar et al. (2017) Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9:26

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