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Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques

Martina Rauner et al, 30 November 2021 

Martina Rauner1,2Ines Foessl, 3Melissa M. Formosa, 4,5Erika Kague, 6Vid Prijatelj, 7,8,9Nerea Alonso Lopez, 10Bodhisattwa Banerjee, 11Dylan Bergen, 6,12Björn Busse, 13Ângelo Calado, 14Eleni Douni, 15,16Yankel Gabet, 17Natalia García Giralt, 18Daniel Grinberg, 19Nika M. Lovsin, 20Xavier Nogues Solan, 18Barbara Ostanek, 20Nathan J. Pavlos, 21Fernando Rivadeneira, 22Ivan Soldatovic, 23Jeroen van de Peppel, 8Bram van der Eerden, 8Wim van Hul, 24Susanna Balcells, 19Janja Marc, 20Sjur Reppe, 25,26,27Kent Søe 28,29,30and David Karasik31,32*‡

  • 1Department of Medicine III, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany
  • 2University Hospital Carl Gustav Carus, Dresden, Germany
  • 3Department of Internal Medicine, Division of Endocrinology and Diabetology, Endocrine Lab Platform, Medical University of Graz, Graz, Austria
  • 4Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta
  • 5Centre for Molecular Medicine and Biobanking, University of Malta, Msida, Malta
  • 6School of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, United Kingdom
  • 7Department of Oral and Maxillofacial Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
  • 8Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
  • 9The Generation R Study, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
  • 10Rheumatology and Bone Disease Unit, CGEM, Institute of Genetics and Cancer (IGC), Edinburgh, United Kingdom
  • 11Musculoskeletal Genetics Laboratory, Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
  • 12Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, Faculty of Health Sciences, University of Bristol, Bristol, United Kingdom
  • 13Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • 14Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, Portugal
  • 15Department of Biotechnology, Agricultural University of Athens, Athens, Greece
  • 16Institute for Bioinnovation, B.S.R.C. “Alexander Fleming”, Vari, Greece
  • 17Department of Anatomy & Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  • 18Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), ISCIII, Barcelona, Spain
  • 19Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain
  • 20Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia
  • 21Bone Biology & Disease Laboratory, School of Biomedical Sciences, The University of Western Australia, Nedlands, WA, Australia
  • 22Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands
  • 23Institute of Medical Statistics and Informatic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia
  • 24Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
  • 25Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway
  • 26Department of Plastic and Reconstructive Surgery, Oslo University Hospital, Oslo, Norway
  • 27Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway
  • 28Clinical Cell Biology, Department of Pathology, Odense University Hospital, Odense, Denmark
  • 29Department of Clinical Research, University of Southern Denmark, Odense, Denmark
  • 30Department of Molecular Medicine, University of Southern Denmark, Odense, Denmark
  • 31Azrieli Faculty of Medicine, Bar-Ilan University, Ramat Gan, Israel
  • 32Marcus Research Institute, Hebrew SeniorLife, Boston, MA, United States

The availability of large human datasets for genome-wide association studies (GWAS) and the advancement of sequencing technologies have boosted the identification of genetic variants in complex and rare diseases in the skeletal field. Yet, interpreting results from human association studies remains a challenge. To bridge the gap between genetic association and causality, a systematic functional investigation is necessary.

Read the full paper here.

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