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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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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

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Immune Thrombocytopenia (ITP) is an autoimmune disorder characterized by a low platelet count, which can lead to increased bleeding and bruising. In this episode, we will discuss the pathophysiology, clinical implications, and advancements in ITP.

Our guest today, Professor Waleed Ghanima, is a renowned hematologist at Østfold Hospital and the University of Oslo in Norway. Prof. Ghanima has extensive experience in the field of hematology and has contributed significantly to research on ITP. Today, he will share his insights on ITP, its clinical management, and future directions in research and management.

MAT-BE-2500387 03.2025

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A new genomic definition of high-risk multiple myeloma (HR-MM) has been recently proposed by IMS/IMWG. The associated peer-reviewed publication is planned to be released in Spring 2025.

Expert guest in this episode is Professor Monique Minnema, haematologist at the University Hospital in Utrecht in The Netherlands. She is an international expert with focus on diagnosis and treatment of malignant haematological diseases including Multiple Myeloma and Waldenström disease. She just recently accepted the vice-chair position of the HOVON Multiple Myeloma Working Group in the Netherlands.

MAT-BE-2500276 2/2025

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In this episode of The Hematology Podcast, we will delve into the complex world of thrombotic microangiopathy, or TMA. This condition encompasses a group of disorders characterized by small blood clots forming in the smallest blood vessels, leading to various complications. Diagnosing TMA can be particularly challenging due to its overlapping symptoms with other conditions and the need for specialized tests.

In today’s episode, we have the honor of welcoming Professor Riitta Lassila to the studio. Professor Lassila is a renowned expert in hematology with extensive experience in researching and treating TMA. She currently serves at the Helsinki University Hospital in Finland, where she leads the Hemostasis and Thrombosis Research Unit. Her groundbreaking work has significantly advanced our understanding of TMA and its management.



MAT-BE-2401005 (ver. 1) 11 2024

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In this episode, we dive into the fascinating world of liquid biopsy-derived DNA as a revolutionary tool for comprehensive mutation profiling in multiple myeloma. This innovative approach offers a non-invasive way to analyse genetic alterations, potentially transforming how we diagnose and monitor this complex hematological cancer. Join us as we explore the promises and challenges of using liquid biopsies to decode the genetic landscape of multiple myeloma and its implications for personalized medicine.  

We have the pleasure of welcoming Dr. Wouter De Brouwer from Belgium to our studio. Dr. De Brouwer is a haematologist in training and PhD student at the hematology and immunology research group (HEIM) from the faculty of Brussels health campus, with a special interest in genomic profiling in haematological malignancies. Join us as Dr. De Brouwer sheds light on the potential of liquid biopsies to revolutionize personalized medicine and improve patient outcomes. 

ASSET-24016322 (ver. 1.0) Oct 2024

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In this episode, we focus on Thalassemia major, a severe form of the disease. In a previous episode, we discussed Thalassemia minor and intermedia with Professor Dr. Bart Biemond from Amsterdam UMC. Now, we will delve deeper into the challenges and treatments associated with Thalassemia major. Prof. Biemond is still with us to share his expertise.

Professor Bart Biemond is a hematologist at the Amsterdam UMC in The Netherlands. Bart is head of the Hemoglobinopathy Expert Center and an active member of the medical advisory boards of the national patient associations.


 

ASSET-24016319 (ver. 2.0) Oct 2024

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Acute myeloid leukemia (AML) is a hematopoietic stem cell-derived myeloid malignancy characterized by manifold genetic aberrations and poor overall survival. Standard treatment for newly diagnosed fit AML patients is intensive chemotherapy. Relapse is, however, a challenge in more than 40% of AML patients. AML is also a disease with a large degree of individual heterogeneity, which creates challenges both for diagnostics and for developing targeted treatment options. 

Our guest is Björn Gjertsen, professor of hematology at the University of Bergen, Norway. Björn is also part of Centre for Cancer Biomarkers, CCBIO, and founding member and chair of the Nordic AML group and member of HOVON AML International Steering Group. He has extensive experience in treating AML, in clinical and translational research of AML, including very exciting newly published data on how single cell signalling profiling may help to detect responders and non-responders early in the treatment. 

MAT-BE-2400183 (ver. 1) Feb 2024

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Smoldering multiple myeloma (SMM) is an intermediate condition that lies between Monoclonal gammopathy of undetermined significance (MGUS) and active multiple myeloma along the spectrum of clonal plasma cell proliferative disorders. Smoldering multiple myeloma may take years to become active multiple myeloma. In some cases, people who have this condition never develop active multiple myeloma. 

In this episode we have the pleasure of having the Norwegian haematologist Fredrik Schjesvold with us. Fredrik is the founder and leader of Oslo Myeloma Center at Oslo University Hospital. Fredrik is an international expert on Multiple Myeloma in charge of one of Europe’s largest centres for clinical research in this disease. He is also chairman of the Nordic Myeloma Study Group and leads the Norwegian Myeloma Group. Besides he is member of the International Myeloma Working Group, and board member of the European Myeloma network (EMN).

 MAT-BE-2400119  (ver. 1)  02.2024

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Thalassemia is a hereditary blood disorder, in which the synthesis of hemoglobin chains is impaired.  Consequently, people with thalassemia minor may have slight to severe anemia which usually does not cause any problems. Thalassemia major in contrast is a severe disorder with need of transfusion and complications with iron overload. In this episode we will mainly discuss thalassemia minor and intermedia. 

Our guest today Professor Bart Biemond is a hematologist at the Amsterdam UMC in The Netherlands. Bart is head of the Hemoglobinopathy Expert Center and an active member of the medical advisory boards of the national patient associations. Today, Bart will tell us more about thalassemia, its clinical implications and developments in research which implicate patients today and in the future.

MAT-BE-2400104 (v.1.0)) February 2024