candidate's description) The goals of this translational research project are to genetically and clinically dissert the imprinted genes underlying each component of Prader-Willi syndrome (especially the gene causing obesity), and to explore the potential role of early childhood morbid obesity plays in mental retardation. This will be accomplished by screening for mutations in candidate genes for various phenotypic components of PWS; performing psychometric testing on children with early onset morbid obesity and their families; and correlating hormonal and neurotransmitter levels from blood and CSF with the psychometric and mutation analyses.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Midcareer Investigator Award in Patient-Oriented Research (K24)
Project #
5K24HD001361-05
Application #
6736847
Study Section
Pediatrics Subcommittee (CHHD)
Program Officer
Oster-Granite, Mary Lou
Project Start
2000-06-07
Project End
2006-05-31
Budget Start
2004-06-01
Budget End
2006-05-31
Support Year
5
Fiscal Year
2004
Total Cost
$111,101
Indirect Cost
Name
University of Florida
Department
Pediatrics
Type
Schools of Medicine
DUNS #
969663814
City
Gainesville
State
FL
Country
United States
Zip Code
32611
Kweh, Frederick A; Miller, Jennifer L; Sulsona, Carlos R et al. (2015) Hyperghrelinemia in Prader-Willi syndrome begins in early infancy long before the onset of hyperphagia. Am J Med Genet A 167A:69-79
Heymsfield, Steven B; Avena, Nicole M; Baier, Leslie et al. (2014) Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring) 22 Suppl 1:S1-S17
Miller, Jennifer L; Lynn, Christy H; Driscoll, Danielle C et al. (2011) Nutritional phases in Prader-Willi syndrome. Am J Med Genet A 155A:1040-9
Miller, Jennifer L; Lynn, Christy H; Shuster, Jonathan et al. (2011) Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. Am J Med Genet A 155A:569-73
Miller, Jennifer L; Couch, Jessica; Schwenk, Krista et al. (2009) Early childhood obesity is associated with compromised cerebellar development. Dev Neuropsychol 34:272-83
Miller, Jennifer L; Shuster, Jonathan; Theriaque, Douglas et al. (2009) Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study. J Clin Sleep Med 5:448-53
Miller, Jennifer L; Goldstone, Anthony P; Couch, Jessica A et al. (2008) Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. Am J Med Genet A 146A:570-7
Miller, Jennifer L; Couch, Jessica A; Leonard, Christiana M et al. (2007) Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. Genet Med 9:536-43
Miller, Jennifer L; Couch, Jessica A; Schmalfuss, Ilona et al. (2007) Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. Am J Med Genet A 143:476-83
Miller, Jennifer; Kranzler, John; Liu, Yijun et al. (2006) Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J Pediatr 149:192-8

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