WG4 – Functional Investigations

Leaders: David Karasik and Martina Rauner
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WG4 – Functional Investigations

Leaders

Technische Universität Dresden
Azrieli Faculty of Medicine

Active Members

Björn Busse
Germany
Bram van der Eerden
Netherlands
Carola Zillikens
Netherlands
Dylan Bergen
University of Bristol
United Kingdom
Emma Duncan
United Kingdom
HJ van de Peppel
Netherlands
Kent Søe
Denmark
Maria Ines Almeida
Portugal
Sara Moura
Portugal
Susana Santos
Portugal

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