Working groups overview
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.

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
  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

Members

Ramona Zwamborn

Co-chair / UMCU, The Netherlands

Ramona Zwamborn

Co-chair / UMCU, The Netherlands

Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands.

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