The Medical Genetics Training Program is responsible for training physicians and Ph.D.level scientists in clinical genetics, molecular genetics, clinical and medical biochemical genetics and cytogenetics to become Board eligible to sit for the certification exam offered by the American Board of Medical Genetics. The Medical Genetics Training Program includes: the Metropolitan Washington DC Medical Genetics Residency Program, the Metropolitan Washington DC Medical Genetics Fellowship Program, the Metropolitan Washington DC Medical Biochemical Genetics Residency Program, the NIH/Children's National Medical Center Combined Pediatrics Medical Genetics Residency Program. These programs provide training for MDs and or Ph.Ds who seek Board certification in Clinical Genetics, Cytogenetics, Molecular Genetics, Clinical Biochemical Genetics and Medical Biochemical Genetics. Since 1997 we have trained over 100 fellows in these specialties. Training sites include the NIH, Children's National Medical Center(CNMC), Walter Reed Army Medical Center, Washington Hospital Center, Quest Diagnostics and GeneDx. Other sites including Johns Hopkins, University of Maryland Medical Center, the Maryland State Newborn Screening lab and the Biochemical Diagnostics lab at CNMC are elective training sites for Fellows with specific interests. The Clinical, Biochemical Genetics and Pediatric/Medical Genetics Fellows hold full time positions at the National Institutes of Health. Individuals enrolled in the Molecular Genetics and Cytogenetics program have salaries from their labs while they train under the Program/NHGRI supported infrastructure. NHGRI supported infrastructure includes faculty, laboratory settings with budget for disposables, course materials, travel allowance for scientific meetings and books. This program is nationally recognized for both its depth and breadth of training in genetics as well as the number of trainees it has produced. The elite research setting of the National Institutes of Health also provide Fellows with a unique opportunity to do research during their training optimizing their potential to be future leaders in the world of genetics.

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Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
2011
Total Cost
$2,164,521
Indirect Cost
Name
National Human Genome Research Institute
Department
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Agochukwu, Nneamaka B; Solomon, Benjamin D; Muenke, Maximilian (2012) Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst 28:1447-63
Muenke, Maximilian (2012) 2011 William Allan Award introduction: John M. Opitz. Am J Hum Genet 90:390-1
Nah, Hyun-Duck; Koyama, Eiki; Agochukwu, Nneamaka B et al. (2012) Phenotype profile of a genetic mouse model for Muenke syndrome. Childs Nerv Syst 28:1483-93
Arcos-Burgos, Mauricio; Velez, Jorge I; Solomon, Benjamin D et al. (2012) A common genetic network underlies substance use disorders and disruptive or externalizing disorders. Hum Genet 131:917-29
Roessler, Erich; Vélez, Jorge I; Zhou, Nan et al. (2012) Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions. Mol Genet Metab 105:658-64
Basel-Vanagaite, Lina; Sprecher, Eli; Gat, Andrea et al. (2012) New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies. Pediatr Dermatol 29:89-95
Roessler, Erich; Hu, Ping; Hong, Sung-Kook et al. (2012) Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly. PLoS One 7:e39026
Pineda-Alvarez, Daniel E; Roessler, Erich; Hu, Ping et al. (2012) Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Hum Genet 131:301-10
Ribeiro, Lucilene A; Roessler, Erich; Hu, Ping et al. (2012) Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Res A Clin Mol Teratol 94:912-7
Bous, Sophia M; Solomon, Benjamin D; Graul-Neumann, Luitgard et al. (2012) Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature. Clin Dysmorphol 21:183-90

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