WG4 – Functional Investigations

Leaders: David Karasik and Martina Rauner
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WG4 – Functional Investigations

Leaders

Technische Universität Dresden
Azrieli Faculty of Medicine

Members

Anastasis Stephanou
Cyprus
Ângelo Calado
Portugal
Antonia Sophocleous
Cyprus
Björn Busse
Germany
Bodhisattwa Banerjee
Israel
Bram van der Eerden
Netherlands
Dylan Bergen
United Kingdom
Eleni Douni
Greece
Emma Duncan
United Kingdom
Erika Kague
United Kingdom
Eva Hassler
Austria
Fernando RIVADENEIRA
Netherlands
Graham Williams
United Kingdom
Gretl Hendrickx
BElgium
HJ van de Peppel
Netherlands
Ines Foessl
Austria
Janja Marc
Slovenia
Joao Eurico Fonseca
Portugal
John Bassett
United Kingdom
John Kemp
Australia
Kent Søe
Denmark
Maria Ines Almeida
Portugal
Melissa FORMOSA
Malta
Natalia García Giralt
Spain
Nathan John Pavlos
Australia
Neha Sherma
Denmark
Sara Moura
Portugal
Sjur Reppe
Norway
Susana Balcells
Spain
Susana Santos
Portugal
Terhi Heino
Finland
Vid Prijatelj
Netherlands
Wim van Hul
Belgium
Yankel Gabet
Israel

Description

The objective of this Working Group is to initially liaise with WG1 to make an inventory of the expertise across functional groups of the network with a trajectory on “wet lab” cell and organism models of the musculoskeletal system.

Transform the aforementioned knowledge transfer into achieved enhanced capacity of the participating partners, resulting in true teaming-up around the objectives (i.e., efficient prioritization of functional assessments and equitable distribution of functional work across collaborators).

OBJECTIVE: liaise with WG1 to make an inventory of the expertise across functional groups of the network with a trajectory on “wet lab” cell and organism models of the musculoskeletal system. Then, in cooperation with WG2 it will work on coupling and establishing correspondence between the phenotype characterizations at the human population and clinical case level and the different functional models arising from the cell and organism models. Finally, it will also perform an assessment of the very numerous genetic discoveries and procure classifying them into “functional units” within biological pathways. These “functional units” will be the building blocks to distribute the workload of functional efforts across the different groups available with the aim of avoiding redundancy and facilitating complementary activities by considering the existing expertise across the groups. This WG will also liaise with WG5 to obtain a lists of variants and genes, which can be taken forward for functional follow-up. Exchange of skills and knowledge between the participating groups will be procured in close interaction with WP6.

Deliverables

D5. Report of the biological pathway integration summit (meeting) with participation of representatives from all the Working Groups of the network (document).

D6. Report on the “functional units” methodological framework (including principles, applicability, generalizability (document); Functional Units Analysis Results for Bone Disease (document).

Activities

  1. In-person meeting: Malta 2019; phone/online meetings: monthly since then
  2. Organized: workshop (on zebrafish; Malta 2019)
  3. Prepared: statement/Report of the biological pathway integration / Functional
  4. Units Analysis Results for Bone Disease (publication, to be submitted).

Related publications

C Shochat, Z Wang, C Mo, S Nelson, R Donaka, J Huang, David Karasik, M Brotto. Deletion of SREBF1, a functional bone-muscle pleiotropic gene, alters bone density and lipid signaling in zebrafish. Endocrinology, bqaa189, https://doi.org/10.1210/endocr/bqaa189 (a GWAS-derived gene validation)
Rauner: Attended ECTS2020 (with talk for AHP), ASBMR2020 (with MTP and abstracts).

Møller, A.M.J., Delaisse, J.‐M., Olesen, J.B., Bechmann, T., Madsen, J.S. and Søe, K. (2020), Zoledronic Acid Is Not Equally Potent on Osteoclasts Generated From Different Individuals. JBMR Plus e10412. https://doi.org/10.1002/jbm4.10412