Rephonic
Artwork for Rare Disease Discussions

Rare Disease Discussions

Peter Ciszewski, CheckRare
Fabry Disease
Myasthenia Gravis
Hereditary Angioedema
Cutaneous T-Cell Lymphoma
Lysosomal Disorders
Enzyme Replacement Therapy
Clinical Trials
Fibrodysplasia Ossificans Progressiva
Quality Of Life
Personalized Medicine
Genetic Testing
Cushing Syndrome
Progressive Familial Intrahepatic Cholestasis
Genetic Disorders
Multi-Organ Disease Management
Acetylcholine Receptor Autoantibodies
FDA
C1 Inhibitor Deficiency
Nephrology
Lysosomal Storage Disease

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

PublishesDailyEpisodes186Founded5 years ago
Number of ListenersCategories
MedicineHealth & Fitness

Listen to this Podcast

Artwork for Rare Disease Discussions

Latest Episodes

Shunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s Health, Delaware, USA; Alessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research Hospital, Tennessee, USA; Merve Emecen Sanli, MD, Associate Professor, Department o... more

YouTube

Duarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon, Portugal; Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of Medicine, Pennsylvania, USA; Betul C... more

YouTube

Oral Alpan, MD, Immunologist, Amerimmune, Virginia, USA; Svenja Keller, PhD student, University of Zurich, Switzerland; Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Jerusalem,... more

YouTube

Mia Horowitz, PhD, Tel Aviv University; Aitor Aguirre, PhD, Michigan State University, Michigan, USA; and Ying Sun, PhD, University of Cincinnati, discuss the use of organoid models in lysosomal disorder research and drug development.

This continuin... more

YouTube

Key Facts

Accepts Guests
Accepts Sponsors
Contact Information
Podcast Host
Number of Listeners
Find out how many people listen to this podcast per episode and each month.

Similar Podcasts

People also subscribe to these shows.

Recent Guests

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
Maya Kineen
A 22-year-old college student and advocate for Fabry disease awareness
Episode: Fabry Disease From a Patient’s Perspective, Featuring Maya Kineen
Nicola Longo
Chief of the Division of Medical Genetics, with over 30 years of experience treating Fabry disease
University of Utah
Episode: Signs and Symptoms of Fabry Disease, Featuring Nicola Longo, MD
William Burns, MD
Biochemical geneticist at Greenwood Genetic Center
Greenwood Genetic Center
Episode: Fabry Disease Overview, Featuring William Burns, MD
David Warnock
Professor Emeritus at the University of Alabama at Birmingham
University of Alabama at Birmingham
Episode: Kidney Involvement in Lysosomal Disorders

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.

The discussions are engaging, and experts provide valuable insights that are highly relevant to clinical practices.
Listeners appreciate the practical and evidence-based information shared about rare diseases.
Many find the personal stories shared in episodes impactful and thought-provoking.

Chart Rankings

How this podcast ranks in the Apple Podcasts, Spotify and YouTube charts.

Talking Points

Recent interactions between the hosts and their guests.

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.
Lysosomal Disorders and the Brain
Q: Given recent studies, can we expect benefits from gene therapy like GM1 or GM2 after two to three years?
Durability of treatment effects is uncertain and typically declines over time; gene editing may offer more permanent solutions.
Lysosomal Disorders and the Brain
Q: Are the infantile forms of these conditions candidates for gene therapy?
In principle, yes, any age can be a candidate if there is an effective treatment available.
Lysosomal Disorders and the Brain
Q: Given the approval is expected for various treatment modalities, which one do you think will deliver the most rapid transformation?
Small molecules are generally more effective at penetrating the blood-brain barrier, whereas AAV therapies might miss some cells. Hence, small molecules are often preferred for rapid results.

Audience Metrics

Listeners, social reach, demographics and more for this podcast.

Listeners per Episode
Gender Skew
Location
Interests
Professions
Age Range
Household Income
Social Media Reach

Frequently Asked Questions About Rare Disease Discussions

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

Focused on rare diseases, the content brings together clinical perspectives, news, and contemporary issues related to various rare conditions. Episodes often feature expert discussions that tackle diagnostic challenges, treatment advancements, and patient experiences. The series highlights not only the medical aspects of conditions like CIDP, ITP, and hemophilia but also shares personal stories that emphasize the importance of early diagnosis and individualized treatment approaches. Unique to this series is its commitment to Continuing Medical Education (CME), supporting healthcare professionals in staying informed on the latest research and treatment strategies in the realm of rare diseases.

Where can I find podcast stats for Rare Disease Discussions?

Rephonic provides a wide range of podcast stats for Rare Disease Discussions. We scanned the web and collated all of the information that we could find in our comprehensive podcast database. See how many people listen to Rare Disease Discussions and access YouTube viewership numbers, download stats, audience demographics, chart rankings, ratings, reviews and more.

How many listeners does Rare Disease Discussions get?

Rephonic provides a full set of podcast information for three million podcasts, including the number of listeners. View further listenership figures for Rare Disease Discussions, including podcast download numbers and subscriber numbers, so you can make better decisions about which podcasts to sponsor or be a guest on. You will need to upgrade your account to access this premium data.

What are the audience demographics for Rare Disease Discussions?

Rephonic provides comprehensive predictive audience data for Rare Disease Discussions, including gender skew, age, country, political leaning, income, professions, education level, and interests. You can access these listener demographics by upgrading your account.

How many subscribers and views does Rare Disease Discussions have?

To see how many followers or subscribers Rare Disease Discussions has on Spotify and other platforms such as Castbox and Podcast Addict, simply upgrade your account. You'll also find viewership figures for their YouTube channel if they have one.

Which podcasts are similar to Rare Disease Discussions?

These podcasts share a similar audience with Rare Disease Discussions:

1. Symptomatic: A Medical Mystery Podcast

How many episodes of Rare Disease Discussions are there?

Rare Disease Discussions launched 5 years ago and published 186 episodes to date. You can find more information about this podcast including rankings, audience demographics and engagement in our podcast database.

How do I contact Rare Disease Discussions?

Our systems regularly scour the web to find email addresses and social media links for this podcast. We scanned the web and collated all of the contact information that we could find in our podcast database. But in the unlikely event that you can't find what you're looking for, our concierge service lets you request our research team to source better contacts for you.

Where can I see ratings and reviews for Rare Disease Discussions?

Rephonic pulls ratings and reviews for Rare Disease Discussions from multiple sources, including Spotify, Apple Podcasts, Castbox, and Podcast Addict.

View all the reviews in one place instead of visiting each platform individually and use this information to decide if a show is worth pitching or not.

How do I access podcast episode transcripts for Rare Disease Discussions?

Rephonic provides full transcripts for episodes of Rare Disease Discussions. Search within each transcript for your keywords, whether they be topics, brands or people, and figure out if it's worth pitching as a guest or sponsor. You can even set-up alerts to get notified when your keywords are mentioned.

What guests have appeared on Rare Disease Discussions?

Recent guests on Rare Disease Discussions include:

1. Christine Eleeson
2. Raphael Schiffmann
3. Maya Kineen
4. Nicola Longo
5. William Burns, MD
6. David Warnock

To view more recent guests and their details, simply upgrade your Rephonic account. You'll also get access to a typical guest profile to help you decide if the show is worth pitching.

Find and pitch the right podcasts

We help savvy brands, marketers and PR professionals to find the right podcasts for any topic or niche. Get the data and contacts you need to pitch podcasts at scale and turn listeners into customers.
Try it free for 7 days