This is an application for continued support for years 36-40 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 79 training faculty, 58 with primary and 21 with secondary appointments in the DMHG. Dr. Beaudet, the current Chair of the DMHG, has served as Program Director for many years and as part of a planned leadership transition of this program, Dr. Lee will be the Program Director starting in 2012. Major research areas in the Program include identifying human disease genes, molecular diagnostics including whole exome analysis, molecular cytogenetics including array CGH, biochemical studies of inborn errors of metabolism, genomic imprinting, molecular dysmorphology, cell and gene therapy, developmental biology and gene targeting in the mouse, genetic control of morphogenesis and development in Drosophila, control of cell cycle, genomic instability, bacterial recombination, genomic sequencing, and genetics of neurological disorders. Trainees include MD or MD/PhD candidates seeking combined clinical and research training or seeking strictly research training, trainees of various degrees seeking combined laboratory diagnostic and research training, and PhD trainees seeking primarily research training in human or nonhuman genetics. The MD trainees generally have completed primary training in pediatrics, medicine, or clinical genetics and PhD trainees most often come directly from completion of graduate school. A major focus of the program is to attract highly qualified MD and MD/PhD 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;130,000 square feet of space for the department's various research, clinical, and administrative activities;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 Intellectual and Developmental Disability Research Center;an NIH funded Mendelian Disease Sequencing Center, and overall depth in molecular genetics.
This is a competing renewal of a longstanding and productive training grant that supports the postdoctoral research of physician scientists and scientists in th area of medical genetics. The program is in its 36th year and has trained leaders both nationally and internationally in medical genetics. The focus has been the training especially of physician scientists in the board certified medical genetics specialties though secondary emphasis has been placed on PhD scientists pursuing research and training in laboratory diagnostic specialties of medical genetics The program is built on a unique integrated model of diverse human genetic, clinical, and model organism training faculty, a robust clinical training program, a large medical genetics diagnostic laboratory medicine program, and specialized research centers such as the human genome sequencing center all integrated within on Department of Molecular and Human Genetics at the Baylor College of Medicine.
|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|
|Jain, Mahim; Tam, Allison; Shapiro, Jay R et al. (2018) Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med :|
|Tam, Allison; Chen, Shan; Schauer, Evan et al. (2018) A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet 94:502-511|
|Tam, Allison; Sliepka, Joseph M; Bellur, Sunil et al. (2018) Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging 51:160-163|
|Meng, Linyan; Pammi, Mohan; Saronwala, Anirudh et al. (2017) Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr 171:e173438|
|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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