COR2ED - Rare Diseases Medical Conversation

Join experts Dr Markus Schmidt and Dr Anna Heidbreder as they discuss the importance of early recognition and referral in narcolepsy type 1 (NT1), particularly as new targeted treatments begin to emerge.  Key discussion points include:  Emerging therapies:  How OX2R agonists may transform narcolepsy care, with Phase 3 overporextin data showing significant improvements in wakefulness and cataplexy...

In this podcast, Medical Oncologist, Dr Aman Chauhan and Neuroendocrine Patient Advocate, Susan Meckler-Plummer, discuss extrapulmonary high-grade neuroendocrine carcinomas (EP-NECs), a rare, aggressive, and often misunderstood subset of neuroendocrine cancers.    They clarify the crucial differences between NETs and NECs, explain why accurate classification and rapid treatment are essential, and...

How are advances in radioligand therapy shaping the treatment of neuroendocrine tumours, and what does recent trial evidence tell us? What are the key considerations for patient selection, sequencing, and safety?   In this podcast moderated by the Oncology Brothers, Drs Rohit and Rahul Gosain are joined by medical oncologist Dr Heloisa Soares and nuclear medicine physician Prof. Ken Herrmann to ex...

Hear from Dr Andrew Dauber and Dr Marta Ramón Krauel in this podcast as they explore short stature conditions, including SPIGFD (severe primary IGF-1 deficiency) / growth hormone resistance, through real patient cases and clinical insights. While growth hormone deficiency is a well-known cause of short stature, this discussion covers patient cases where growth hormone levels are normal or even ele...

In this second episode of a two-part podcast series focusing on neuroendocrine tumours (NETs), gastroenterologist Dr Mohid S Khan and NET patient Sally Jenkins explore shared decision-making, between patient and physician.      The speakers discuss different treatment settings, including home vs hospital-based injections, as well as the importance of individualising treatment decisions, as there i...

In this first episode of a two-part podcast series focusing on neuroendocrine tumours (NETs), gastroenterologist Dr Mohid S Khan and NET patient Sally Jenkins discuss the importance of communication and collaboration during consultations. This can include how to make a patient feel as comfortable and in control as possible, as well as recognising their goals and concerns.      The speakers share t...

In the second episode of a two-part podcast series, Prof. Martyn Caplin and Prof. Rachel Riechelmann discuss how to optimize treatment for people living with NETs and future developments in the field which may help to improve patient outcomes. The episode includes information on different treatment options and modalities, and well as best practice on identifying which patients may benefit most fro...

In this first episode of a two-part podcast series, Prof. Martyn Caplin and Prof. Rachel Riechelmann discuss regional differences in NET epidemiology, and patient pathways, as well as look to future developments.   NETs are complex, rare diseases. Their optimal management and treatment requires early diagnosis, shared decision-making, and timely referral. The best possible patient journey is impac...

Comprehensive biochemical and genetic testing allows for the identification of classical and non-classical forms of primary IGF-I deficiency and can identify overlapping syndromes. Are you updated on the treatment for patients with severe primary IGF-I deficiency? Listen as expert pediatric endocrinologists delve into this rare growth disorder. Join Prof. Helen Storr (Professor and Honorary Consul...

Do you know how to differentiate between growth hormone deficiency (or GHD) and primary IGF-I deficiency (or growth hormone resistance) and the key challenges in the diagnosis and management of patients with short stature conditions? For children presenting with short stature, an early and correct diagnosis is essential to allow children to achieve their full growth potential with appropriate trea...

Gene therapy and gene-modified cell therapies have a great potential for rare diseases to either help patients to cure their disease or improve their lives. Did you know that gene therapy will probably become a major treatment option for many rare diseases in the near future? Listen as expert hematologists delve into this topic and take hemophilia as a practical example. Join Prof. Cédric Hermans...

Robert Mitchell-Thain, CEO of the PBC Foundation, Edinburgh, UK and Kath Houghton, Autoimmune Specialist Nurse, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK, discuss their ‘Primary Biliary Cholangitis (PBC) highlights from EASL 2023’ in this podcast. Their discussion covers the relationship between initial symptoms and disease trajectory, the association of biochemical control...

Prof. Gideon Hirschfield, Professor of Medicine, Division of Gastroenterology, University of Toronto, Canada and Dr Emma Culver, Consultant Hepatologist and Honorary Senior Lecturer at the John Radcliffe Hospital and University of Oxford, UK discuss their ‘Primary Biliary Cholangitis (PBC) highlights from EASL 2023’ in this podcast. Their discussion focuses on cancer risk associated with PBC; live...

In this podcast, Prof. Martyn Caplin and Dr Aman Chauhan discuss the role of somatostatin analogues (SSAs) at progression and whether to continue or not. In patients with well-differentiated Grade 1/2 neuroendocrine tumours (NETs) and slowly progressive asymptomatic disease, potential strategies for continuing SSA at progression include increasing the SSA dose frequency from every four to every tw...

In this third episode of a three-episode podcast series, COR2ED and ASBMR have partnered with patient advocates Inês Alves (European Rare Bone Forum) and Tracy Hart (Osteogenesis Imperfecta Foundation) to provide rare bone disease highlights from the ASBMR 2022 Annual Meeting, focusing on the patient perspective. The experts opened the podcast with the importance of engaging diverse patient commun...

In this second episode of a three-episode podcast series, COR2ED and ASBMR have partnered with Professor Eric Rush (Children’s Mercy Hospital) to provide rare bone disease highlights from ASBMR 2022 Annual Meeting. Prof. Rush opens with detailed information on fibrodysplasia ossificans progressiva (FOP): symptoms of this severe congenital condition include permanent heterotopic ossifications prece...

In this first episode of a three-episode podcast series, COR2ED and ASBMR have partnered with Professor Anna Teti (University of L’Aquila) to provide rare bone disease highlights from the Rare Diseases Symposium that preceded the ASBMR 2022 Annual Meeting. Opening with an overview of ongoing clinical research in several rare bone diseases, Prof. Teti highlights the importance of preparing clinicia...

In this podcast episode, Prof. Kris Kowdley, Director, Liver Institute Northwest, Washington State University, USA and Prof. Jörn Schattenberg, Director, Metabolic Liver Research, University Medical Centre Mainz, Germany provide their take-home messages on primary biliary cholangitis (PBC) data presented at the International Liver Congress 2022. The two experts discuss how to improve PBCdiagnosis,...

In this podcast, Prof. Gideon Hirschfield, Professor of Medicine, Division of Gastroenterology, University of Toronto, Canada and Prof. Ana Lleo, Professor of Internal Medicine, Humanitas University, Milan, Italy, discuss key abstracts on primary biliary cholangitis (PBC) from the International Liver Congress 2022. Their discussions focus on treatments currently available, treatment sequencing, ma...

We have partnered with international experts to provide rare bone disease highlights from ASBMR 2021. This is the final episode in a series of four podcasts, in this episode Dr Eekhoff and Dr Rush discuss their rare bone disease highlights from the meeting.

We have partnered with international experts to provide rare bone diseases highlights from ASBMR 2021.  This is the third episode in a series of four podcasts. In this episode Charlene Waldman (RBD Alliance) and Inês Alves (European Rare Bone Forum) discuss their highlights.

We have partnered with international experts to provide rare bone diseases highlights from ASBMR 2021. This is the second in a series of four podcasts. In this episode Dr Oliver Semler has selected and discusses his highlights.

We have partnered with international experts to provide rare bone disease highlights from ASBMR 2021. This is the first episode in a series of four podcasts, in this episode Dr Mughal and Dr Javaid discuss their highlights.