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COR2ED - Rare Diseases Medical Conversation

COR2ED - Rare Diseases Medical Conversation

By: COR2ED Medical Education
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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© 2023 Education Hygiene & Healthy Living Physical Illness & Disease Science
Episodes
  • Think narcolepsy: Why early recognition and referral matter in an evolving treatment landscape
    Jun 9 2026

    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 with no serious AEs reported.
    • Diagnostic red flags: Recognising excessive daytime sleepiness, cataplexy, sleep paralysis, and hallucinations to help reduce the current 7–10 year delay in diagnosis.
    • Clinical pitfalls: Avoiding common misdiagnoses, such as attributing symptoms to lifestyle-related fatigue in younger patients or sleep apnoea in older adults.
    • Specialist referral: The importance of timely referral for specialist assessment and objective sleep testing to support earlier access to emerging therapies.

    By identifying these symptom clusters earlier, clinicians may improve long-term outcomes and quality of life for people living with NT1.

    Key clinical takeaways:

    • New treatment options are emerging: OX2R agonists represent a shift toward targeting the underlying biology of NT1, with the potential to significantly improve patient outcomes
    • Early recognition is critical: Narcolepsy is often under-recognised and misdiagnosed, so clinicians should maintain a high index of suspicion, particularly in patients with excessive daytime sleepiness
    • Act early and refer appropriately: Timely referral to specialists is essential to confirm diagnosis, optimise management, and ensure patients can benefit from current and emerging therapies

    You can also watch a video of the experts in conversation and download the accompanying transcript on our website: https://cor2ed.com/sleep-connect/programmes/narcolepsy-early-recognition-referral/?media=0

    Or watch on YouTube: https://youtu.be/jHgORhjB_lw

    Follow us on social media:

    LinkedIn: https://www.linkedin.com/company/sleep-connect/about/

    X: https://x.com/SleepConnect_

    Instagram: https://www.instagram.com/cor2edmeded 

    This content is intended for healthcare professionals only.

    This podcast is supported by an Independent Education Grant from Takeda

    This podcast is developed by cor2ed.com

    Published May 2026

    Subscribe to this channel to stay up to date with new Independent Education programmes as they’re released.

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    17 mins
  • Understanding EP-NEC: Through Diagnosis, Treatment, and Support
    Nov 7 2025

    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 highlight current and emerging therapeutic approaches, including DLL3-targeted therapies.

    Through both HCP and patient-centred perspectives, the conversation addresses real-world challenges, the importance of support networks, and the growing sense of hope for people affected by this difficult disease.

    Key clinical takeaways:

    • Unlike NETs, EP-NECs are poorly differentiated, high-grade, aggressive, and fast-growing cancers, with a need for more effective treatments
    • While there remains a medical need for effective treatment of EP-NECs, clinical studies with DLL3-targeted agents show promise
    • Accessing a support network can provide emotional reinforcement and information for patients and their care partners

    You can also watch a video of the experts in conversation and download the accompanying transcript on our website: https://cor2ed.com/net-connect/programmes/ep-nec-diagnosis-treatment-support/?media=0

    Or watch on YouTube: https://youtu.be/nfng2s3jSw8

    Follow us on social media:

    LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect/?viewAsMember=true

    X:https://x.com/net_connectinfo

    This podcast is supported by an Independent Education Grant from Boehringer Ingelheim.

    This podcast is developed by cor2ed.com

    Published in November 2025

    Subscribe to this channel to stay up to date with new Independent Education programmes as they’re released.

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    27 mins
  • Short-stature conditions, including SPIGFD
    Dec 10 2024

    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.

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    24 mins
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