Alan Percy, MD is the PI for this RDCRC;Arthur Beaudet, MD is the co-Pi;and Jane Lane, RN, BSN is the Project Manager. Dr. Percy will commit 20% effort and Dr. Beaudet 10% effort to their respective roles, in both cases with institutional salary support from DAB and Baylor, respectively. Ms. Lane will commit 50% effort as Project Manager. The organizational chart below provides an overview of the chain of responsibility, the consortium lead investigators and the respective consortium sites for AS, RTT, and PWS, the interaction with and between the patient advocacy groups, and the connection of each site to the DTCC/DMCC.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54HD061222-10
Application #
8539398
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2013-08-01
Budget End
2014-07-31
Support Year
10
Fiscal Year
2013
Total Cost
$34,789
Indirect Cost
$3,121
Name
University of Alabama Birmingham
Department
Type
DUNS #
063690705
City
Birmingham
State
AL
Country
United States
Zip Code
35294
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

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