This is an application for continued support for years 31-35 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 73training faculty, 45 with primary and 28 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 neurologic aldisorders. 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 or medicine, 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;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 #
5T32GM007526-35
Application #
8318698
Study Section
Special Emphasis Panel (ZGM1-BRT-5 (PG))
Program Officer
Haynes, Susan R
Project Start
1978-09-30
Project End
2013-06-30
Budget Start
2012-07-01
Budget End
2013-06-30
Support Year
35
Fiscal Year
2012
Total Cost
$270,419
Indirect Cost
$27,916
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
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
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C et al. (2017) Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38:1365-1371
Machol, Keren; Jain, Mahim; Almannai, Mohammed et al. (2017) Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A 173:733-739
Falah, Nadia; Posey, Jennifer E; Thorson, Willa et al. (2017) 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A 173:1066-1070
Santiago-Sim, Teresa; Burrage, Lindsay C; Ebstein, Frédéric et al. (2017) Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet 100:676-688

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