Research

Working Group 1 – Phenotyping

For a better understanding of the disease a thorough phenotype genotype analysis is needed. This working group will harmonize SOP’s.

Members

  • Matthieu Moisse, Belgium

    Chair, matthieu.moisse@vib-kuleuven.be

  • Ramona Zwamborn, The Netherlands

    Co-chair

Ammar Al-Chalabi, Ahmad Al Keilfat, A. Nazli Basak, Ross Byrne, Yolanda Campos, Adriano Chio, Johnathan Cooper-Knock, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Orla Hardiman, Victoria López, Russell L. McLaughlin, Aleksey Shatunov, Vincenzo Silani, Philip Van Damme, Michael A. van Es, Patrick Vourc’h, Atay Vural, Markus Weber

Background

ALS has a remarkable phenotypic variability, with great heterogeneity in disease parameters such as age at onset, site of onset, disease progression/survival, frontotemporal impairment. Several genes have been identified to modify the disease course, like the C9orf72 repeat expansion, UNC13A4, C9orf725, SARM1 and CAMTA1 and probably many more still to be uncovered. For a better understanding of the disease a thorough phenotype genotype analysis is needed.

Objectives

  1. Finalise SOPHIA SOP core clinical data for use for Project MinE (data dictionary)
  2. Harmonised data entry into Progeny (Bas Middelkoop)
  3. Genome wide analysis of phenotypic data to WG data
  4. Explore other ICT set-ups such as GPU’s
  5. Explore more fine grained correction for rare genetic variation in phenotypic analyses