MSeqDR Consortium Overview

What is the MSeqDR Consortium?

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

MSeqDR Consortium is a grass root effort supported by United Mitochondrial Disease Foundation (UMDF) and extramural program officers at NICHD, NIH.

MSeqDR Consortium was initiated at the June 2012 Annual Meeting of the United Mitochondrial Disease Foundation (UMDF).

Why is MSeqDR important?

  • Creates an international genomic data resource for mito disease community
  • Increases our ability to diagnose primary mitochondrial diseases
  • Uses knowledge of disease-causing variants to prioritize variants in specific cases
  • Identifies additional "rare" cases whose genetic diagnosis may not have been known
  • Provides greater opportunity to design research projects to understand the mechanisms underlying specific mitochondrial disorders
  • Investigates modifier genes for known mitochondrial disorders
  • Facilitates identification of genetic links to "secondary" mitochondrial conditions
  • Increases potential for new treatments targeted to precise disorders
  • Clarifies the specific nature of individual patients' diseases
  • Groups patients into "similar" classes
  • Shares genomic data that are already being generated in clinics and labs world-wide.
  • Serves as common repository for exome/genome scale data and analysis tools needed to maximize data utility across the mitochondrial disease community
  • Aims to optimize tools for mitochondrial disease that are compatible but extends beyond existing genomic databases and resources

MSeqDR Grant & Support

MSeqDR Consortium activities are facilitated and supported by:

  • UMDF team: Chuck Mohan, CEO; Dan Wright, President; Philip Yeske, PhD; Janet Owens

  • United Mitochodrial Disease Foundation

  • NICHD Program Officials: Danuta Krotoski, PhD, and Melissa Parisi, MD, PhD
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development

  • North American Mitochondrial Disease Consortium (NAMDC).

  • More than 100 expert mito disease researchers and clinician participants world-wide.

  • MSeqDR Consortium

MSeqDR Consortium Organization

MSeqDR Consortium Structure


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


  • 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)


  • 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

MSeqDR Prototype Development

  • Leaders: Marni Falk, MD (CHOP), Xiaowu Gai, PhD (Loyola), Stephan Zuchner, MD (Miami), Curt Scharfe (Stanford)
  • 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 for 1 year 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.

Aims of MSeqDR Prototype Development Project

  • To update variant annotations for the MSeqDR in a central and continuous fashion.
  • To develop a secure web-based interface for WES dataset analysis that is accessible to the mitochondrial disease community.
  • To apply a centralized workflow to analyze datasets in the MSeqDR prototype pipeline.

MSeqDR Participation?

Interested in joining MSeqDR consortium?

If you are interested in joining the MSeqDR consortium, please contact Dr. Marni Falk at

Discussion about this MSeqDR Prototype Website and Development Effort?

Please contact Dr. Xiaowu Gai at, or comment at our online Feedback below.

MSeqDR Contact and FeedBack?

We welcome your suggestions, comments and bug reports.

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