WG3 – Monogenic Conditions- human KO Models

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

Leaders

University of Malta
University of Helsinki

Active Members

Alper Cebi
Turkey
Anders Kämpe
Sweden
Antonio Maurizi
Italy
Barbara Voraberger
Austria
Celia Gregson
United Kingdom
Diana Crespo
Spain
Dylan Bergen
University of Bristol
United Kingdom
Emma Duncan
United Kingdom
Eveline Boudin
Belgium
Georgina McDonald
UK
Gretl Hendrickx
BElgium
Jannie Dahl Hald
Denmark
Kent Søe
Denmark
Luca Sangiorgi
Italy
Wei Zhou
NL
Wim van Hul
Belgium
Wolfgang Högler
Austria

Description

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.

Deliverables

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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