Rephonic
Artwork for On Rare
Bridgebio
MOCD
ALPE
Tuberous Sclerosis Complex
Limb Girdle Muscular Dystrophy Type 2I
LMNA Cardiomyopathy
Genetic Testing
Acondroplasia
Gijón, Spain
Calcium
Limb Girdle Muscular Dystrophy Scientific Workshop
Gene Therapy
Achondroplasia
Dilated Cardiomyopathy
FOXG1 Syndrome
Limb Girdle Muscular Dystrophy
ADH1
Autosomal Dominant Hypocalcemia Type 1
FDA
Adoption

Honest conversations with the rare community, led by our hosts, David Rintell and Mandy Rohrig of BridgeBio.

PublishesMonthlyEpisodes48Founded4 years ago
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EducationLife SciencesScience

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Artwork for On Rare

Latest Episodes

Severe seizures, nonstop crying, and an exaggerated startle reflex marked the beginning of Elliott’s journey with molybdenum cofactor deficiency type A (MOCD type A), an ultra-rare inherited metabolic disorder that can cause devastating neurological ... more

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Seizures, incorrect diagnoses, and years of unanswered questions shaped Arielle’s journey with autosomal dominant hypocalcemia type 1 (ADH1). ADH1 is a rare genetic condition in which the body is unable to accurately sense blood calcium levels, leadi... more

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In this episode of On Rare: Innovators, hosts David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, speak with Kat Bryant Knudson, Founder and CEO of the Speak Foundation and a leade... more

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In our 2025 year-in-review episode, On Rare reflects on a year filled with meaningful conversations and powerful storytelling. Joined by David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at Br... more

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Recent Guests

Günter Schwarz
World expert on MOCD, professor of biochemistry
University of Cologne
Episode: “He Gives Everything a Go” — Elliott, Living with MOCD Type A
Kat Bryant Knudson
CEO of the Speak Foundation, patient advocate
Speak Foundation
Episode: On Rare Innovators: Kat Bryant Knudson and Reimagining Collaboration — “It’s Our Table”
Katie Bjork
Mother advocating for rare disease awareness
Family affected by ADH1
Episode: Another Year of Purpose and Progress: On Rare Looks Back at 2025
Nasha Fitter
Entrepreneur and founder of Citizen Health
Citizen Health
Episode: Another Year of Purpose and Progress: On Rare Looks Back at 2025
Yago Alonso
Son of Carmen, former coordinator of ALPE, Senior Advisor
ALPE
Episode: On Rare Innovators: Carmen Alonso y la fundación de ALPE - "El amor que das, lo recibes de vuelta"
Fani González
Translator/Secretary of projects, early ALPE contributor
ALPE
Episode: On Rare Innovators: Carmen Alonso y la fundación de ALPE - "El amor que das, lo recibes de vuelta"
Greg Roof
President and founder of DCM Foundation; LMNA cardiomyopathy patient
DCM Foundation
Episode: "It’s good to be alive." Greg is living with LMNA cardiomyopathy
Carmen Alonso
Director of ALPE Foundation; co-creator of ALPE
ALPE Foundation
Episode: On Rare Innovators: Carmen Alonso and the Founding of ALPE - "The Love You Give, You Receive Back"
Cerys Davidge
Limb girdle muscular dystrophy type 2I patient and podcaster
Unbalanced with Cerys Davidge
Episode: “I’m still very grateful for the life that I’ll have.” Cerys is living with Limb-Girdle Muscular Dystrophy type 2i/R9

Hosts

Mandy Rohrig
Host of On Rare; BridgeBio patient advocacy team member in some instances; frequently co-hosts and leads episodes.
David Rintell
Co-host of related episodes; Head of patient advocacy at BridgeBio in some listings; frequently leads discussions and interview segments.

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Talking Points

Recent interactions between the hosts and their guests.

“It’s important to stay connected” Daniel is living with Tuberous Sclerosis Complex (TSC)
Q: What has been most challenging about getting appropriate care for TSC, and how have you navigated it?
He discusses the need to travel to specialized clinics, the variability in local provider knowledge, and the importance of building a network of informed clinicians to coordinate care.
“It’s important to stay connected” Daniel is living with Tuberous Sclerosis Complex (TSC)
Q: How and when were you diagnosed with TSC, and what was that experience like?
Daniel describes being diagnosed in childhood after visits to dermatology and neurology specialists, the process involving multiple doctors, and the realization that TSC requires ongoing, multidisciplinary management.
“I’m still very grateful for the life that I’ll have.” Cerys is living with Limb-Girdle Muscular Dystrophy type 2i/R9
Q: Tell us a little bit about your childhood and your family.
Cerys describes a busy, musical family dynamic in Cardiff; her sisters also carry the LGMD2I diagnosis, and her parents actively pursued care and adaptation, shaping a supportive environment and early awareness of the condition.
"It’s good to be alive." Greg is living with LMNA cardiomyopathy
Q: How would earlier genetic information have changed your path, and what can families learn from your experience?
Early sequencing could have prompted closer monitoring, earlier ICD consideration, and proactive family screening, potentially delaying progression and enabling more timely interventions; Greg emphasizes cascade testing and community education as crucial impacts of genetic awareness.
"It’s good to be alive." Greg is living with LMNA cardiomyopathy
Q: Greg, what was life like before LMNA-related symptoms appeared, and how did your early experiences foreshadow the diagnosis?
He recalls being a strong runner who experienced VTAC episodes mistaken for panic, which persisted until a formal evaluation revealed underlying electrical and genetic issues, leading to later genetic testing that identified lamin A mutations.

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Frequently Asked Questions About On Rare

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

The show presents honest conversations with members of the rare disease community, blending patient and caregiver storytelling with clinical context from researchers and industry leaders. Across episodes, listeners hear personal journeys through diagnosis, treatment access, and daily life challenges, alongside explanations of emerging therapies and the science behind rare conditions. Episodes frequently highlight advocacy, multi-stakeholder collaboration, and practical care strategies, with standout moments centered on home treatment logistics, patient data initiatives, and the power of patient-led organizations in accelerating research and access. The format often weaves on-location storytelling, expert commentary, and foundation-driven pe... more

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2. The Indicator from Planet Money
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On Rare launched 4 years ago and published 48 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 On Rare?

Recent guests on On Rare include:

1. Günter Schwarz
2. Kat Bryant Knudson
3. Katie Bjork
4. Nasha Fitter
5. Yago Alonso
6. Fani González
7. Greg Roof
8. Carmen Alonso

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