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Rare Disease Discussions

Peter Ciszewski, CheckRare
Fabry Disease
Gene Therapy
Myasthenia Gravis
Lysosomal Disorders
Enzyme Replacement Therapy
Hereditary Angioedema
Fibrodysplasia Ossificans Progressiva
Lysosomal Storage Disorders
Clinical Trials
Cutaneous T-Cell Lymphoma
Genetic Testing
Chronic Inflammatory Demyelinating Polyneuropathy
Quality Of Life
Gaucher Disease
Personalized Medicine
Brain Health
AAV Gene Therapies
Cushing Syndrome
Mastocytosis
Neurodegenerative Diseases

News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.

PublishesDailyEpisodes191Founded6 years ago
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MedicineHealth & Fitness

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Artwork for Rare Disease Discussions

Latest Episodes

Robert Rapaport, MD, Professor of Pediatric Endocrinology, and Director of the Comprehensive Growth Center at the Icahn School of Medicine, Mount Sinai Medical Center, New York City, discusses the causes of growth hormone deficiency and its treatment... more

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Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai discusses arginine vasopressin deficiency. The name of the rare dis... more

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This accredited continuing education program is supported by an educational grant from Blueprint Medicine.

It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit checkrare.com/learning/p-system... more

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Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinica... more

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Recent Guests

Christopher Romero, MD
Pediatric endocrinologist
Mount Sinai, New York City
Episode: Arginine Vasopressin Deficiency (AVP-D) Overview (Christopher Romero, MD)
Alessandra D'Azzo
Invited speaker described as an icon in LSDs
Episode: Current Issues in Gene Therapies for Lysosomal Disorders
Merve Emecen Sanli
Senior Researcher at the Gene Therapy Center, UT Southwestern
UT Southwestern Medical Center
Episode: Current Issues in Gene Therapies for Lysosomal Disorders
Ryan Colburn
Speaker from Los Angeles, presenting on patient preferences and funding/reimbursement
Episode: Current Issues in Gene Therapies for Lysosomal Disorders
Ruben Boado
Professor, University of California, Los Angeles
University of California, Los Angeles
Episode: Nanotechnology and Lysosomal Disorders
Dr. Beggs
Physician/Researcher mentioned as presenting mitigation strategies
Episode: Ch 3: Mitigation Strategies to Address the Challenges in the Development of Gene Therapy Programs
Dr. Parsons
Physician/Researcher mentioned as presenting mitigation strategies
Episode: Ch 3: Mitigation Strategies to Address the Challenges in the Development of Gene Therapy Programs
Christine Eleeson
A patient diagnosed with CIDP who shares her journey and experiences.
Episode: Consider Rare: Suspecting and Diagnosing CIDP
Raphael Schiffmann
An international expert in lysosomal storage and other rare neurodegenerative diseases, trained as a neurologist and focused on clinical and translational research.
Episode: Lysosomal Disorders and the Brain

Host

Dr. Eto
Host of the symposium and a recurring expert in rare disease discussions.

Reviews

5.0 out of 5 stars from 4 ratings
  • Great info on rare diseases

    Excellent information

    Apple Podcasts
    5
    PeterMacUser
    United States5 years ago
  • Great information

    Good information on rare diseases

    Apple Podcasts
    5
    Luke McSpedon
    United States5 years ago

Listeners Say

Key themes from listener reviews, highlighting what works and what could be improved about the show.

Great show for clinicians seeking concise rare-disease insights.
High-quality guests and evidence-based discussions help frame clinical decisions.
Covers a broad range of rare diseases with actionable information for practice.
Listeners appreciate CME-style content and practical takeaways for patient care.

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Talking Points

Recent interactions between the hosts and their guests.

Organoids and Lab-Grown Models in Lysosomal Disorders
Q: What is the rationale for using organoids to model pediatric and congenital heart diseases in the context of lysosomal disorders?
Organoids recreate human developmental processes in a controlled environment, enabling study of disease features that are not accurately captured in animal models, such as human cardiac innervation and epicardial function, and they support testing of therapeutic strategies in patient-specific genetic contexts.
Expanded Applications of AI in Lysosomal Disorders
Q: Could virtual basophils be used for therapeutics or to guide treatment choices, not just diagnostics?
Yes in principle, as a decision-support tool, AI could propose candidate treatments or dosing strategies, nhưng the value lies in iteratively testing those ideas with lab and clinical data rather than blindly applying them; human oversight and validation remain essential.
Theranostics and Lysosomal Disorders
Q: How widespread is the lysosome exocytosis mechanism across tissues and cancer types, and is it a universal target or tissue-specific?
The lysosome exocytosis machinery is highly conserved across cell types, with similar regulators involved, but the reliance on specific components varies by tissue and cancer type, suggesting a generally applicable pathway with tissue- and context-dependent sensitivity.
Catching the Clues, Changing the Course of Lysosomal Storage Disorders
Q: Is there an exploration of newborn screening for alpha-manosidosis?
Yes, newborn screening is valuable and can help identify attenuated conditions or severe conditions, thereby allowing earlier treatment.
Catching the Clues, Changing the Course of Lysosomal Storage Disorders
Q: What is the biggest barrier to see today in transitioning alpha-manosidosis patients from pediatric to adult care?
Transitioning is often challenging for patients with cognitive impairment as they require ongoing support from parents and may not transition fully to adult care.

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Frequently Asked Questions About Rare Disease Discussions

What is Rare Disease Discussions about and what kind of topics does it cover?

A chamber of expert voices explores rare diseases from multiple angles, with a strong emphasis on lysosomal storage disorders, neuromuscular and immune-mediated conditions, and cutting-edge therapies. Episodes pair clinical case discussions with emerging research updates, often framing topics around diagnostics, management strategies, and the patient experience. Highlights include deep dives into gene therapies for LSDs, CIDP and other neuropathies, FOP management, and ISTH-era hematology advances, all with clinician-scientist host teams. The format frequently features CME-style content and expert panels, making it especially useful for clinicians, researchers, and pharma teams looking for credible, education-forward conversations and poten... more

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Which podcasts are similar to Rare Disease Discussions?

These podcasts share a similar audience with Rare Disease Discussions:

1. TED Radio Hour

How many episodes of Rare Disease Discussions are there?

Rare Disease Discussions launched 6 years ago and published 191 episodes to date. You can find more information about this podcast including rankings, audience demographics and engagement in our podcast database.

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What guests have appeared on Rare Disease Discussions?

Recent guests on Rare Disease Discussions include:

1. Christopher Romero, MD
2. Alessandra D'Azzo
3. Merve Emecen Sanli
4. Ryan Colburn
5. Ruben Boado
6. Dr. Beggs
7. Dr. Parsons
8. Christine Eleeson

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