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
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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