Rare Diseases Medical Conversation

COR2ED Medical Education
Rare Diseases Medical Conversation

Join medical experts as they discuss their approaches to identifying, treating, and managing rare diseases, like primary biliary cholangitis, neuroendocrine tumours, rare bone diseases, and growth disorders. The conversations also explore the evolving treatment landscape, including exciting innovations in gene therapies and the use of somatostatin analogues. This independent medical education podcast is for HCPs with the ultimate goal of improving care for their patients. For more information, visit www.cor2ed.com

  1. 12/10/2024

    Short-stature conditions, including SPIGFD

    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 elevated, yet IGF-1 levels remain low—a hallmark of primary IGF-1 deficiency.  Gain valuable knowledge on identifying and managing this rare condition, with practical takeaways for clinical practice.   Key clinical takeaways:   Growth hormone resistance can range from severe IGF-1 deficiency, like in classic Laron syndrome, to milder mutations in the same receptor. There can also be mutations in other parts of the signalling pathway  Patients with SPIGFD have low IGF-1 levels resulting from growth hormone resistance or insensitivity, rather than deficiency, as they produce sufficient or even high levels of growth hormone without secondary causes of growth failure  Laron syndrome, a classic form of SPIGFD, is characterised by severe short stature and distinct features such as spontaneous hypoglycemia, mid-face hypoplasia, frontal bossing, a high-pitched voice, and underdeveloped genitalia in boys  Early and accurate diagnosis of SPIGFD is crucial for effective management, as growth hormone therapy is ineffective for these patients; recognising the distinction between severe and less severe IGF-1 deficiency, as well as primary versus secondary causes, ensures appropriate treatment to ensure optimal outcomes  Recombinant IGF-1 therapy is indicated for patients with SPIGFD. Healthcare professionals must monitor for adverse events such as hypoglycemia and potential malignancies    Watch the experts in conversation in the full video or get the 5-minute highlights: https://cor2ed.com/pe-connect/programmes/short-stature-spigfd/     Follow us on social media:  LinkedIn: https://www.linkedin.com/showcase/pe-connect/ X: https://x.com/peconnectinfo   This content is intended for healthcare professionals only.   The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution.  This podcast is supported by an Independent Education Grant from Ipsen  This podcast is developed by cor2ed.com  Published December 2024    Subscribe to this channel to stay up to date with new Independent Education programmes as they’re released.

    24 min

  2. 09/11/2024

    Neuroendocrine tumours (NETs) – Shared decision-making. Part 2: Individualising treatment decisions

    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 is often no standard therapy for patients with NETs. Finally, they look at some of the studies reporting patient preferences, and how the data can be used to inform patient decisions.    Prefer to watch and listen? Watch the video and download the full transcript on the COR2ED website https://cor2ed.com/net-connect/programmes/net-shared-decision-making/?media=1  Watch the full video on YouTube https://youtu.be/2JYuPhc2jHg  Watch the highlights video on YouTube – https://www.youtube.com/watch?v=pPMVLjPLv8k     Follow us on social media  LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect   X: https://x.com/net_connectinfo     This content is intended for healthcare professionals only.  The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution.  This podcast is supported by an Independent Medical Education Grant from Ipsen  This podcast is developed by cor2ed.com  Published July 2024

    23 min

  3. 09/11/2024

    Neuroendocrine tumours (NETs) – Shared decision-making. Part 1: Patient journey

    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 their real-life experiences of what makes a good consultation, from the perspectives of both a patient and a physician. They also explore the importance of support networks, individualising treatment, and the impact of NET and NET treatment options in daily life.     NETs are complex, rare diseases. Optimal management and treatment requires early diagnosis, shared decision-making, and timely referral. Are you aware of how healthcare practitioners and patients can share decision- making? Or the recent data on how patients prefer to receive treatment?     In this first episode of a two-part podcast series, Dr Mohid S Khan and NET patient Sally Jenkins discuss shared decision-making in NET consultations and ways to help the patient in their journey.    Prefer to watch and listen? Watch the video and download the full transcript on the COR2ED website https://cor2ed.com/net-connect/programmes/net-shared-decision-making/ Watch the full video on YouTube https://youtu.be/YgqrEnSePWg Watch the highlights video on YouTube – https://www.youtube.com/watch?v=pPMVLjPLv8k   Follow us on social media  LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect   X: https://x.com/net_connectinfo     This content is intended for healthcare professionals only.  The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen  This podcast is developed by cor2ed.com  Published July 2024

    30 min

  4. 05/28/2024

    Regional differences in NET: Treatment and future developments

    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 from particular treatments using available biomarkers.    Prof. Martyn Caplin is Professor of Gastroenterology and GI Neuroendocrinology at the Royal Free Hospital and University College London, UK, he also leads The Royal Free London “European Neuroendocrine Tumour Society’s Centre of Excellence” and the UCL Academic Neuroendocrine Tumour Unit, which includes leading scientific and clinical research programmes into NETs. Prof. Rachel Riechelmann is a medical oncologist and clinical scientist focused on colorectal/anal cancers and NETs. Director of the Clinical Oncology Department, AC Camargo Cancer Center, in Sao Paulo, Brazil and is Head of the Neuroendocrine Tumors Reference Center.      Prefer to watch as well as listen?    Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/net-connect/programmes/regional-differences-neuroendocrine-tumours-nets-2/       Or go to the video on YouTube: https://youtu.be/zd_JvUmIhFg      We are pleased to share that this podcast is endorsed by the North American Neuroendocrine Tumor Society (NANETS). You can find out more about NANETS at https://nanets.net/     The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen.    This podcast is developed by cor2ed.com

    21 min

  5. 05/28/2024

    Regional differences in NET: Epidemiology, diagnosis, and referral strategies

    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 impacted by regional differences in management strategies, referral pathways, and availability of diagnostic modalities and treatments.. Are you aware of the epidemiology of NETs and current best practices for diagnosis, referral strategies, and treatment for NETs? Or how regional differences can impact these? In this first episode of a two-part podcast series, Prof. Martyn Caplin and Prof. Rachel Riechelmann discuss regional differences in NET epidemiology, patient pathways, as well as look to future developments.     Prof. Martyn Caplin is Professor of Gastroenterology and GI Neuroendocrinology at the Royal Free Hospital and University College London, UK, he also leads The Royal Free London “European Neuroendocrine Tumour Society’s Centre of Excellence” and the UCL Academic Neuroendocrine Tumour Unit, which includes leading scientific and clinical research programmes into NETs. Prof. Rachel Riechelmann is a medical oncologist and clinical scientist focused on colorectal/anal cancers and NETs. Director of the Clinical Oncology Department, AC Camargo Cancer Center, in Sao Paulo, Brazil and is Head of the Neuroendocrine Tumors Reference Center.    Prefer to watch as well as listen?    Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/net-connect/programmes/regional-differences-neuroendocrine-tumours-nets-1/       Or go to the video on YouTube: https://youtu.be/6fKAxS4u-2o      We are pleased to share that this podcast is endorsed by the North American Neuroendocrine Tumor Society (NANETS). You can find out more about NANETS at https://nanets.net/     The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen.    This podcast is developed by cor2ed.com

    22 min

  6. 12/12/2023

    Short stature: Severe primary IGF-I deficiency (SPIGFD). Part 2

    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 Consultant in Paediatric Endocrinology at Queen Mary University, London and Barts Health Trust, London, UK) and Prof. Andrew Dauber (Chief of Endocrinology, Children's National Hospital. Washington, DC, USA) as they engage in a conversation about the diagnosis and management of patients with severe primary IGF-I deficiency. This is the second video podcast episode in a two-part series on patients with severe short stature. Prefer to watch as well as listen? Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/pe-connect/programmes/severe-primary-igfi-deficiency/ Or go to the video on YouTube: https://youtu.be/7sNGzJRzv7g This Podcast is endorsed by the Magic Foundation.Find out more on their website: https://www.magicfoundation.org/ The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen. This podcast is developed by COR2ED.com

    26 min

  7. 12/06/2023

    Short stature: Key challenges in diagnosis and management. Part 1

    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 treatment. Listen as expert pediatric endocrinologists delve into these rare growth disorders. Join Prof. Philippe Backeljauw (Professor at Cincinnati Children's Hospital Medical Center and the University of Cincinnati, Cincinnati, USA) and Prof. Dr. Joachim Woelfle (Chairman of Pediatrics, Director of the Department of Pediatric and Adolescent Medicine at the Friedrich Alexander University Erlangen, Germany) as they engage in a conversation regarding key challenges in the diagnosis and management of patients with short stature conditions. The experts discuss the incidence of patients with GHD and severe primary IGF-I deficiency and how to differentiate these conditions based on clinical presentation as well as biochemical and genetic testing. The importance of taking a good medical history and physical examination is discussed, as well as various caveats related to biochemical and genetic testing. Regional differences in the diagnosis of these patients are covered as well as key challenges in the diagnosis and management. Finally, the experts discuss the different treatment options as well as the importance of ensuring caregivers are well-informed regarding the efficacy and safety of the respective treatments. This is the first video podcast episode in a two-part series on patients with severe short stature. Prefer to watch as well as listen? Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/pe-connect/programmes/rare-growth-disorders-podcast/ Or go to the video on YouTube: https://youtu.be/OfI3lZgjew0   This Podcast is endorsed by the Magic Foundation. Find out more on their website: https://www.magicfoundation.org/ The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen. This podcast is developed by COR2ED.com

    34 min

  8. 12/06/2023

    Gene therapy and gene-modified cell therapy in rare diseases

    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 (Head of the Division of Haematology, the Hemostasis and Thrombosis Unit and the Hemophilia Center of the Saint-Luc University Hospital in Brussels, Belgium) and Prof. Miguel Escobar (Professor of Medicine and Pediatrics, University of Texas Health Science Center at Houston-McGovern Medical School and University of Texas M.D. Anderson Cancer Center Medical Director, Gulf States Hemophilia & Thrombophilia Center Houston, USA) as they engage in a conversation about the potential of gene and gene-modified cell therapies in rare diseases, and how early gene therapies have been implemented as a treatment approach for rare diseases, such as leber congenital amaurosis, spinal muscular atrophy, beta-thalassemia, adrenoleukodystrophy, and hemophilia. The experts explore hemophilia as an example of how gene therapy has become a reality within rare diseases. They discuss why we need gene therapy for rare disease, what gene therapy and gene modified cell therapy is, and how this has become a reality in hemophilia, and look to the future of gene therapy for rare diseases. Finally they reflect on the importance of a multidisciplinary approach. - Access information on the programme, the clinical takeaways, the flashcard and the transcript here https://cor2ed.com/hemostasis-connect/programmes/gene-therapy-rare-diseases/ Find out about the experts Prof Cedric Hermans and Prof. Miguel Escobar.  The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from The American Society of Gene + Cell Therapy and Pfizer.

    28 min
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Join medical experts as they discuss their approaches to identifying, treating, and managing rare diseases, like primary biliary cholangitis, neuroendocrine tumours, rare bone diseases, and growth disorders. The conversations also explore the evolving treatment landscape, including exciting innovations in gene therapies and the use of somatostatin analogues. This independent medical education podcast is for HCPs with the ultimate goal of improving care for their patients. For more information, visit www.cor2ed.com

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