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 #
5U54HD061222-09
Application #
8381954
Study Section
Special Emphasis Panel (ZRG1-HOP-Y)
Project Start
Project End
Budget Start
2012-08-01
Budget End
2013-07-31
Support Year
9
Fiscal Year
2012
Total Cost
$36,813
Indirect Cost
$3,310
Name
University of Alabama Birmingham
Department
Type
DUNS #
063690705
City
Birmingham
State
AL
Country
United States
Zip Code
35294
Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M et al. (2017) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19:13-19
Dy, Marisela E; Waugh, Jeff L; Sharma, Nutan et al. (2017) Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol 75:91-95
Killian, John T; Lane, Jane B; Lee, Hye-Seung et al. (2017) Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol 70:20-25
Tarquinio, Daniel C; Hou, Wei; Berg, Anne et al. (2017) Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain 140:306-318
Tan, Wen-Hann; Bird, Lynne M; Sadhwani, Anjali et al. (2017) A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A :
Lane, Jane B; Salter, Amber R; Jones, Nancy E et al. (2017) Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord 47:1102-1112
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
Percy, Alan K (2016) Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-32
Shivers, Carolyn M; Leonczyk, Caroline L; Dykens, Elisabeth M (2016) Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome. J Autism Dev Disord 46:2126-37
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

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