Genetics of rare bone diseases – in collaboration with ICCBH
Date & Time: 17 September 2020, 4pm CEST
Featuring Uwe Kornak 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.
Format:
- 5 min welcome & introductions
- 35 min presentation
- 20 min Q&A
Learning Objectives:
- Definition of the major groups of rare skeletal disorders.
- The concept of heritability and how this can be interpreted in the case of monogenic disorders vs. genetic susceptibility for a disorder.
- Exceptions from the classical inheritance patterns.
Featuring Uwe Kornak University of Medical Center Göttingen
Uwe KORNAK, M.D. Ph.D., is head of the department of medical genetics and leader of a research group at the Institute of Human Genetics, University Medical Center Göttingen, Germany.
Through his work as a human geneticist he has a broad experience with clinical and molecular genetic diagnostics of rare human disorders with a special focus on neuromuscular and skeletal phenotypes. During his Ph.D. project as a biochemist at the Center for Molecular Neurobiology Hamburg Uwe Kornak became involved in the generation and interdisciplinary analysis of mouse models for human disorders. Up to now he not only identified several genes associated with human disorders, but also analysed the effect of these gene defects in in vitro and in vivo models. Recently, he has started switching to iPS cells as models for studying mechanisms and therapeutic approaches for rare musculoskeletal disorders. Mechanistically, he is most interested in the regulation of trafficking and ion homeostasis of intracellular compartments with a focus on Golgi-related processes including glycosylation.
Uwe Kornak is reviewer for different journals focusing on human genetics and musculoskeletal disorders and received the Ian T. Boyle award of the European Calcified Tissue Society in 2007 and the Ulmer Dermatologiepreis in 2011. He is member of the Euroglycan-Omics network for congenital disorders of glycosylation and of the German network for rare skeletal disorders (NetsOs).
5 recent publications
1. Howaldt A, Hennig AF, Rolvien T, Rössler U, Stelzer N, Knaus A, Böttger S, Zustin J, Geißler S, Oheim R, Amling M, Howaldt HP, Kornak U. Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation. J Bone Miner Res. 2020 Jul;35(7):1322-1332.
2. Witkos TM, Chan WL, Joensuu M, Rhiel M, Pallister E, Thomas-Oates J, Mould AP, Mironov AA, Biot C, Guerardel Y, Morelle W, Ungar D, Wieland FT, Jokitalo E, Tassabehji M, Kornak U, Lowe M. GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation. Nat Commun. 2019 Jan 10;10(1):127. doi: 10.1038/s41467-018-08044-6.
3. Chan WL, Steiner M, Witkos T, Egerer J, Busse B, Mizumoto S, Pestka JM, Zhang H, Hausser I, Khayal LA, Ott CE, Kolanczyk M, Willie B, Schinke T, Paganini C, Rossi A, Sugahara K, Amling M, Knaus P, Chan D, Lowe M, Mundlos S, Kornak U. Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genet. 2018 Mar 21;14(3):e1007242.
4. Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 2;101(5):833-843.
5. Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015. 97(3):483-92.
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.
