WG3 – Monogenic Conditions- human KO Models

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


University of Malta - Block A, Level 1
Faculty of Health Sciences, Mater Dei Hospital
Msida, Malta
University of Helsinki
Haartmaninkatu 10
Helsinki, Finland


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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