GENIUS (GENetically determined ImmUne-mediated EnteropathieS)

Person in charge:

Frank Ruemmele (chair)

39 active members from 16 European countries 1 member from Australia, 1 member from Brazil

Description:

Phenotypic and Genotypic caracterisation of early onset inflammatory/immunemediated enteropathies of Mendelian inheritance

Projects and other activity:

Ongoing projects:

  • Preparation of a longitudinal registry for patients with very early onset colitis and enteropathy (GENIUS-Immunobiota registry). Ethical clearance obtained in France and submitted in several European countries
  • Autoimmune enteropathy survey (37 cases identified) (Scientific steering committee: Helene Lengliné-Garnier, Paris, Jochen Kammermeier, London)
  • Clinical phenotyping and functional testing of children with mild and severe forms of autoimmune enteropathy (Scientific steering committee: Frank RUEMMELE and Mamoun ELAWAD)

Original Research Projects

  • Clinical phenotyping of very early-onset colitis due to defective IL10 axis
  • AIE phenotyping and functional testing
  • Diagnostic testing: over 100 samples of the GENIUS group, with ultimate diagnosis in 1/3 of patients (exome sequencing)

Last meeting in Budapest 17-18.01.2014 at the Academy of Science:

21 participants (plus 10 local attendees)

Publications

  1. Bénédicte Pigneur, Johanna Escher, Mamoun Elawad, Rosa Lima, Stephan Buderus, Jaroslaw Kierkus, Graziella Guariso, Danielle Canioni, Karen Lambot, Cécile Talbotec, Neil Shah, Bernadette Begue, Frédéric Rieux-Laucat, Olivier Goulet, Nadine Cerf-Bensussan, Bénédicte Neven, Frank M. Ruemmele. Phenotypic characterisation of very early-onset IBD due to mutations in the IL10, IL10Receptor alpha or beta gene – a survey of the GENIUS working group Inflammatory Bowel Disease 2013;19:2820-28.

Reports: -