WG3 – Monogenic Conditions- human KO Models

Leaders: Outi Makitie and Melissa Formosa
WG3 – Monogenic Conditions- human KO Models

Active Members

Alper Cebi
Karadeniz Technical University
Anders Kampe
Karolinska Institute
Angela Xuereb-Anastai
University of Malta
Anna Teti
University of L'Aquila
Antonio Maurizi
University of L'Aquila
Celia Gregson
University of Bristol
Diana Ovejero Crespo
University of Barcellona
Doug Kiel
Harvard Medical School
Duncan Bassett
Imperial College London
Dylan Bergen
University of Bristol
Emma Duncan
Evangelia Ntzani
University of Ioannina
Georgina McDonald
University of Bristol
Graham Williams
Imperial College London
Gretl Hendrickx
University of Antwerp
Jannie Dahl Hald
Aarhus University Hospital
Jose Antonio Riancho
University of Cantabria
Luca Sangiorgi
Rizzoli Institute, Medical Genetics and Rare Orthopaedic Diseases
Maria Carola Zillikens
Erasmus MC
Maria Carolina Medina Gomez
Erasmus MC
Maria Luisa Brandi
University of Florence
Natalia Garcia-Giralt
University of Barcellona
Susanna Balcells
University of Barcellona
Uunur Styrkársdóttir
Vivi Zhou
Erasmus MC
Wolfgang Högler
Kepler University Hospital


The objective of this Working Group up will initially be to make an inventory of all the genes underlying monogenic conditions presenting with a clear musculoskeletal phenotype.

After this, the main focus of WG5 will be to evaluate the overlap between this list of genes and those genes characterized by WG4 and trace them back into common biological pathways. This WG will also liaise with WG3 and WG4 providing lists of genes that can be taken forward for functional follow-up and bioinformatics mining.


D3. Monogenic disorders database (website) and Monogenic disorders genes and mutation report (document).

D4. Report of the monogenic disorders public event summit with participation of members from the scientific network and other stakeholders (meeting).

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