MSeqDR Consortium Organization

WORKING GROUP 1: TECHNOLOGY AND BIOINFORMATICS

• WG1 Co-Chairs: Marni Falk, MD (CHOP/Upenn), Xiaowu Gai, PhD (chla), Curt Scharfe, MD, PhD (Stanford)
• WG1 Advisors: Lisa Brooks, PhD (NHGRI), Deanna Church, PhD (NCBI, NIH)

WORKING GROUP 2: PHENOTYPING, DATABASING, IRB CONCERNS, AND ACCESS

• WG2 Co-Chairs: Patrick Chinnery, MD, PhD (Newcastle), Lee-Jun Wong, PhD (Baylor), and Peter White, PhD (CHOP/Penn)
• WG2 Advisors: Donna Maglott, PhD (NCBI, NIH) and Yaffa Rubinstein, PhD (NCATS, ORDR)

WORKING GROUP 3: MITOCHONDRIAL DNA SPECIFIC CONCERNS

• WG3 Co-Chairs: Vincent Procaccio, PhD (Angers) and Douglas Wallace, PhD (CHOP/Upenn)
• WG3 Advisor: Richard Cotton, PhD (Melbourne/Human Variome Project)

MSeqDR Prototype Development

• Leaders: Marni Falk, MD (CHOP), Xiaowu Gai, PhD (CHLA), Stephan Zuchner, MD (Miami)
• International participation of Mito Disease clinicians and researchers generating and analyzing whole exome data: Holger Prokisch (Germany), Marcella Attimonelli (Italy), Mark Tarnopolsky Canada), Eric Shoubridge Canada), Grant Mitchell , Isabella Thiffault (Canada), David Thorburn (Australia), Anu Sumolainen-Wartiovaara (Finland), Patrick Chinnery (Newcastle, UK), Yasushi Okazaki (Japan).
• Dedicated MSeqDR bioinformatician, funded jointly by UMDF and NAMDC, will establish MSeqDR website and tools, data file handling, comparative analyses of bioinformatics pipelines, extract/link phenotypic data from NAMDC patient registry, perform common reannotation of all exome data to deposit and mine in user friendly web interface.