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
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
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
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
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
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
Abbott, Megan; Jain, Mahim; Pferdehirt, Rachel et al. (2017) Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A 173:2789-2794
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
Jain, Mahim; Kennedy, Adam D; Elsea, Sarah H et al. (2017) Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies. Clin Chim Acta 466:105-111
Posey, Jennifer E; Martinez, Rebecca; Lankford, Jeremy E et al. (2017) Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol 66:53-58.e5
O'Neil, Derek S; Stewart, Christopher J; Chu, Derrick M et al. (2017) Conditional postnatal deletion of the neonatal murine hepatic circadian gene, Npas2, alters the gut microbiome following restricted feeding. Am J Obstet Gynecol 217:218.e1-218.e15

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