An important component of the Rare Disease Clinical Research Consortium for Rare Diseases Clinical Research Network is pilot projects. The pilot projects within this proposal will be administered through the IRSF subcontract. IRSF has a capped indirect rate of 10%, so this will be applied to these projects. Two pilot studies are proposed in this application, each spanning 2 years. Additional money is budgeted for the final 2 years of this funding period for additional pilot studies to be chosen during year 3. We have opted to leave these funds initially uncommitted in order to maintain flexibility to fund exciting ideas that may arise during this funding period, however, there are some potential ideas, which are listed below.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Parisi, Melissa
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Alabama Birmingham
United States
Zip Code
Suter, Bernhard; Treadwell-Deering, Diane; Zoghbi, Huda Y et al. (2014) Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord 44:703-11
Pinto, Anna L R; Fernández, Iván S; Peters, Jurriaan M et al. (2014) Localization of sleep spindles, k-complexes, and vertex waves with subdural electrodes in children. J Clin Neurophysiol 31:367-74
Gold, June-Anne; Ruth, Chelsey; Osann, Kathryn et al. (2014) Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet Med 16:164-9
Khare, Manaswitha; Gold, June-Anne; Wencel, Marie et al. (2014) Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. J Pediatr Endocrinol Metab 27:511-8
Neul, Jeffrey L; Lane, Jane B; Lee, Hye-Seung et al. (2014) Developmental delay in Rett syndrome: data from the natural history study. J Neurodev Disord 6:20
Dykens, Elisabeth M (2014) Leisure activities in Prader-Wili syndrome: implications for health, cognition and adaptive functioning. J Autism Dev Disord 44:294-302
Percy, Alan (2014) The American history of Rett syndrome. Pediatr Neurol 50:1-3
Killian, John T; Lane, Jane B; Cutter, Gary R et al. (2014) Pubertal development in Rett syndrome deviates from typical females. Pediatr Neurol 51:769-75
Cuddapah, Vishnu Anand; Pillai, Rajesh B; Shekar, Kiran V et al. (2014) Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet 51:152-8
Fernandez, Ivan Sanchez; Chapman, Kevin E; Peters, Jurriaan M et al. (2013) The tower of Babel: survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America. Epilepsia 54:741-50

Showing the most recent 10 out of 35 publications