Pathophysiology and treatment of Autosomal Recessive Osteopetrosis: past, present and future
Live Webinar: 4 March 2021, 4 pm CET
Jointly organised by ECTS & ECTS Academy
Date & Time: 4 March 2021, 4 pm CET
Featuring Anna Villa, and moderated by Bram van der Eerden
Costs: Live webinar is free for ECTS members and non-members, but a registration is required. Recordings are accessible to ECTS members only.
- 5 min welcome & introductions
- 35 min presentation on Osteopetrosis
- 20 min Q&A
- To learn molecular basis of Osteoclast rich and Osteoclast poor Osteopetrosis
- To understand the gold standard therapy
- To learn preclinical model of innovative therapeutic strategies
The Osteopetrosis, Brussels, Belgium, 04-03-2021 has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 1 European CME credits (ECMEC®s).
Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity.
Additional Live Coffee Shop: 4 March 2021, 5 pm CET
ECTS is pleased to invite you for an additional “Coffee Shop” informal discussion at 5 pm CET, right after the live webinar, in order to meet friends and colleagues with an interest in the bone field for a topical chat.
Please register for the live webinar and the additional Zoom link for this Coffee Shop will be sent in the confirmation email as well as in a reminder sent 2 hours in advance of the webinar.
Featuring Anna Villa
Anna Villa received her medical degree in 1986 at University of Milan and completed her medical and research fellowship at National Research Council in Milano where she is currently Research Director. Her team has identified TCIRG1 as the gene responsible for Autosomal Recessive Osteopetrosis (ARO) and later on she contributed to the characterization of two other forms of ARO due to defect in Grey Lethal and Pleckstrin genes. She identified RANKL and RANK as genes responsible for the osteoclast-poor Osteopetrosis. More recently, her group has tested and optimized a novel strategy to correct TCIRG1 gene defect by generating a third-generation lentiviral vector carrying human TCIRG1 gene to cure the most frequent form of ARO. Experiments to scale up gene therapy approach and move to the clinical application are currently ongoing. Currently, Dr. Villa is Head of Unit of the “Pathogenesis and Treatment of Immune and Bone diseases” at Telethon Institute for Gene Therapy, San Raffaele Hospital Milano, Italy.
Moderated by Bram van der Eerden
Bram van der Eerden studied Biology in Utrecht (the Netherlands) and received his PhD in 2002 in Leiden (the Netherlands) working on the hormonal regulation of growth plate cartilage. Since then, he has been working within the department of Internal medicine of the Erasmus MC in Rotterdam on the role of calcium channels in bone and is now mainly involved in the functional characterization of novel compounds/genes/pathways that are anabolic to bone, using in vitro and in vivo models. Currently, he is group leader of the laboratory for Calcium and Bone Metabolism of Internal Medicine at the Erasmus MC. Bram has (co)-authored >50 peer-reviewed papers, has been board member of the Dutch Calcium and Bone Metabolism Society (NVCB) for 6 years and is now in the Bone networking group of the Dutch Society for Endocrinology. He was co-chair of the IBMS young investigator committee and is currently chairing the ECTS Webinar Committee. He has been involved in a number of international projects, including an ongoing Horizon2020 Marie-Curie Staff Exchange project (RUBICON) focusing on the molecular pathways in connective tissue diseases. His research group consists of 2 senior scientists, 1 Post-doc, 4 PhD students and 2 technicians.
Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. Clinical manifestations include dense and brittle bones, anaemia and progressive nerve compression, hampering their quality of life and causing death in the first ten years of age. Molecular bases are heterogenous posing clinical issues on the treatment of some ARO forms. Here I will summarize the pathogenesis of ARO and highlight strengths and weakness of the current standard of care, namely hematopoietic stem cell transplantation (HSCT). Despite the overall survival and outcomes of HSCT are improving, transplant related morbidity and pre-existence of neurological symptoms significantly limit the success of HSCT, while availability of HLA-matched donors still remains an open issue. Novel therapeutic approaches are needed for ARO patients, especially for those who cannot benefit from HSCT. I will revise preclinical studies paving the road map to the development of innovative clinical therapies and broad the current therapeutic scenario.