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Gaucher disease is a rare lysosomal storage disorder that presents with varying prevalence and management approaches across Nordic countries. Despite geographical proximity, these countries show notable differences in disease presentation, diagnostic approaches, and patient care pathways. This episode explores these unique challenges and opportunities while identifying potential areas for collaborative improvement in patient care across Scandinavia. Tune in to discover how this rare condition shapes healthcare approaches in the Nordic region.

Featured Experts:

Professor Allan Lund: Board-certified specialist in paediatrics with expert training in rare paediatric metabolism. He currently works at Rigshospitalet in Copenhagen, Denmark where he is the leader of Center for Rare metabolic diseases for children and adults. He has spent several years researching, diagnosing, and treating patients with different rare metabolic disorders.

Dr. Per Ole Iversen: Medical doctor, specialist in internal medicine and hematology, senior consultant at the Department of Hematology at Oslo University Hospital (OUS), and professor of clinical nutrition at the University of Oslo. He has a particular interest in Gaucher disease and treats the majority of Norwegian Gaucher patients

Among the Nordic countries, Denmark stands out as the only nation without a current dedicated Gaucher Patient Advocacy Group (PAG). However, Danish Gaucher patients are represented through the national rare disease umbrella organization "Sjældne Diagnoser" (Rare Diseases Denmark). This organization serves as a collective voice for patients with rare conditions, including those affected by Gaucher disease. In contrast, the other Nordic countries - Sweden, Norway, Finland, and Iceland - each have their own dedicated Gaucher PAGs. These organizations specifically focus on supporting Gaucher patients and their families, raising awareness, and advocating for their needs within their respective healthcare systems.

MAT-BE-2500772 (ver.1) Jul 2025

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Hematopoietic stem cell transplantation is a crucial part of the treatment of many hematological malignancies. One important effect is alteration of the immune system. To overcome this, vaccinations after hematopoietic stem cell transplantation are a vital part of post-transplant care. The timing, and effectiveness of vaccines in this setting remain complex, as immune reconstitution varies widely. In this episode, we will explore current strategies and emerging insights into how best to safeguard allogenic transplanted patients against infections.

Our guest is Sigrun Einarsdottir, hematologist and researcher with a focus on immune responses in immunocompromised patients. She completed her hematology fellowship and PhD at Sahlgrenska University Hospital in Gothenburg, Sweden in 2022, with her thesis centered on vaccine responses post-transplant. Sigrun is now a postdoctoral fellow at Memorial Sloan Kettering Cancer Center, she continues her work on infections and vaccine responses, particularly after CAR T-cell therapy. Today, she’ll share her expertise on optimizing vaccination strategies in this vulnerable group.

MAT-BE-2501090 (ver.1) 09 2025

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The integration of artificial intelligence (AI) into routine clinical practice is poised to revolutionize the diagnosis and treatment of hematologic diseases. AI-based models are already capable of automatically identifying cell populations including malignant cells, and facilitating early disease detection and prognosis. However, the efficacy of these tools depends on their correct application and interpretation, and hematologists need a basic understanding of machine learning to use AI effectively. In order to exploit the full potential of AI in hematologic diagnostics and to achieve a comprehensive integration of AI-based systems in routine clinical settings, there are challenges and limitations to be solved, including i.e. standardization of the methods, regulatory guidelines and training related questions. In this episode, we will dive into the current status and future directions of using AI in hematology. Oscar Brück, MD, PhD, is guest. He leads the Hematoscope Lab at the Helsinki University Hospital Comprehensive Cancer Center & Center of Diagnostics and the University of Helsinki. His team combines high-resolution imaging, big data, and machine learning to revolutionize the diagnosis and monitoring of hematological diseases. With a multidisciplinary expertise and approach, the group aims to harness technology to tackle cancer heterogeneity.

MAT-BE-2500595 (ver.1) 05 2025