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.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZRG1-HOP-Y)
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University of Alabama Birmingham
United States
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Percy, Alan K (2016) Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-32
Killian Jr, John T; Lane, Jane B; Lee, Hye-Seung et al. (2016) Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr Neurol 58:67-74
Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M et al. (2016) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med :
Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66
Ward, Christopher S; Huang, Teng-Wei; Herrera, José A et al. (2016) Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. PLoS One 11:e0165550
Neul, Jeffrey L; Sahin, Mustafa (2015) Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics 12:519-20
Peters, Sarika U; Gordon, Reyna L; Key, Alexandra P (2015) Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes. J Child Neurol 30:145-52
Neul, Jeffrey L; Glaze, Daniel G; Percy, Alan K et al. (2015) Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. J Child Neurol 30:1743-8
Butler, Merlin G; Wang, Kun; Marshall, Jan D et al. (2015) Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes. Adv Genomics Genet 2015:53-75
Pozzo-Miller, Lucas; Pati, Sandipan; Percy, Alan K (2015) Rett Syndrome: Reaching for Clinical Trials. Neurotherapeutics 12:631-40

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