6th SEPTEMBER 2021
12:30-12:45 – Registration
12.45-1.00 OPENING – Kasia Piróg (Newcastle University, UK) – Welcome and Introduction to the platform
1.00-2.40 RARE DISEASES OF CONNECTIVE TISSUES (chaired by Kasia Piróg and Blandine Poulet)
1.00-1.35 Inês Alves (ANDO, Portugal) – The matrix for research collaborations – The patient expertise in rare disease
1.35-1.50 Brendan Norman (University of Liverpool, UK) – Altered bone metabolism in the rare inherited disease alkaptonuria
1.50-2.05 Eleanor Feneck (King’s College London, UK) – A functional deficit in connective tissue fibroblasts contribute to the cellular and molecular disease pathology in Radial Dysplasia
2.05-2.40Matthew Warman (Harvard University, USA) – What we’ve been doing during the pandemic: studying serotonin effects on bone, removing lubricin domains using iGONAD, and evaluating the effect of killing articular chondrocytes in newborn mice
2.40-4.00 TEA AND COFFEE Posters + AGM
4.00-5.40 RARE DISEASES OF CONNECTIVE TISSUES II (chaired by Kim Midwood and Peter Bell)
4.00-4.35 Brendan Lee (Baylor College of Medicine, USA) – Insights into matrix alterations in tendon homeostasis and repair by studying Osteogenesis Imperfecta
4.35-4.50 Jessica Llewellyn (University of Pennsylvania, USA) – EFEMP1 affects structure and function of the extrahepatic bile duct
4.50-5.05 Helen Dietmar (Newcastle University, UK) – Matrix metalloproteinase 9 –a potential biomarker for COMPopathies
5.05-5.40 Francesco Ramirez (Mount Sinai, USA) – Why Marfan syndrome’s patients are disproportionally taller?
5.40-5.55 Kim Midwood – John Couchman: Vote of thanks
6.00-7.00 ONLINE SOCIAL
7TH SEPTEMBER 2021
10.00-12.40 RARE DISEASE MECHANISMS (chaired by David Wilkinson and Francesca de Sousa Brito)
10.00-10.35 Laurence Legeai-Mallet (INSERM) – New therapeutic approaches for achondroplasia
10:30-11.00 TEA AND COFFEE (Posters)
11.00-11.35 Su Lwin (King’s College London, UK) – Emerging therapies for epidermolysis bullosa
11:35-11.50 Emily Shorter (University of Liverpool. UK) – A Systematic Meta-Analysis and Multi-Source Information Network Identify Novel Osteoarthritis-Associated Genes
11.50-12.05 Franziska Lausecker (University of Manchester, UK) – Identification of an altered matrix signature in kidney ageing and disease
12.05-12:40 Alison Gartland (Sheffield University, UK) – Primary Bone Cancer from Dinosaurs to Dogs
12.40 –1.15 Lunch break
1.15-2.15 BSMB EARLY CAREER RESEARCHER AWARD (chaired by James Whiteford)
2.15-3.55 DRUG REPURPOSING AND PATIENT PERSPECTIVE (chaired by James Whiteford and Emily Shorter)
2.15-2.50 Rachel Lennon (University of Manchester, UK) – Kidneys, basement membranes and Alport syndrome
2.50-3.05 Tonia Vincent (Oxford University, UK) – Musculoskeletal manifestations of Marfan Syndrome including long bone length and kyphosis are rescued by losartan treatment during adolescent growth in mice
3.05-3.20 Juliette Hughes (University of Liverpool, UK) – Distribution of ochronotic pigment in the connective tissues of an alkaptonuria cadaver
3.20-3.55 James Gallagher (University of Liverpool, UK) – What we learned about the ECM whilst developing a therapy for the rare genetic disease AKU
4.00-4.15 PRESENTATION OF PRIZES & CLOSE OF MEETING (chaired by Andrew Pitsillides, Kim Midwood and Kasia Piróg)