WG4 – Functional Investigations

Leaders: David Karasik and Martina Rauner
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WG4 – Functional Investigations

Active Members

Ângelo Calado
Instituto‌ ‌de‌ ‌Medicina‌ ‌Molecular‌ ‌João‌ ‌Lobo‌ ‌Antunes,‌ ‌Faculdade‌ ‌de‌ ‌Medicina,‌ ‌Universidade‌ ‌de‌ ‌Lisboa,‌ ‌Centro Académico de Medicina de Lisboa, Lisboa, Portugal
Barbara Ostanek
University of Ljubljana, Faculty of Pharmacy, Department of Clinical Biochemistry
Bjorn Busse
Bodhisattwa Banerjee
​Musculoskeletal Genetics Laboratory, Azrieli Faculty of Medicine, Bar-Ilan University, Safed
Bram van der Eerden
Daniel Grinberg
Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain
Dylan Bergen
School of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, United Kingdom 
Eleni Douni
Erika Kague
School of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, United Kingdom 
García Giralt, Natalia
Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Gretl Hendrickx
Jeroen van de Peppel
Kent Søe
Clinical Cell Biology, Dept. of Pathology, Odense University Hospital, 5000 Odense C, Denmark
Nathan John Pavlos
Bone Biology & Disease Laboratory, School of Biomedical Sciences, The University of Western Australia, Nedlands, Western Australia 6006
Nika Lovsin
Sjur Reppe
Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway
Susana Barber Santos
Susanna Balcells
Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain
Wim van Hul
University of Antwerp
Xavier Nogues Solan
Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain.
Yankel Gabet
Department of Anatomy & Anthropology, Sackler Faculty of Medicine, Tel Aviv University, 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