Podcast Archive

Rare Awareness Radio podcasts amplify voices from the rare disease community. Each episode features unique perspectives from patients, caregivers, healthcare providers, researchers, or advocates. Through candid conversations and personal stories, we hear lessons learned, successes, and challenges to address.

EpisodeDateListenGuestTitleTopic AreasAdvocacy OrgDescription
40Apr-2026ListenMaureen SmithPatient Partners in Research: CanPKU+ as a Model for EngagementHCU
MSUD
PKU
UCD		CanPKU+Maureen Smith, rare disease patient and clinical trial participant turned researcher and advocate, shares her efforts to enable true patient partnership in research.
39Mar-2026ListenMelanie ColterNewborn Screening and Homocystinuria: Accessing DiagnosisHCUCanPKU+Melanie Colter, HCU Representative on the CanPKU+ Board, shares her family’s experience with delayed diagnosis and explains why consistent newborn screening programs across provinces are critical to improving health outcomes.
38Mar-2026ListenTanya Chute Nagy & Nicole PalloneSupporting Those Who Live With Rare: Our Goals, Their LivesHCU
MSUD
PKU
UCD		CanPKU+CEO and Board President of CANPKU+ share how their early experiences as parents in the PKU community grew into leadership at CanPKU+, shaping national support, education, and advocacy for families across Canada.
37Mar-2026ListenJohn AdamsAccess to Treatments in Canada: Policy Pathways and GapsHCU
MSUD
PKU
UCD		CanPKU+Former CANPKU+ leader shares decades of advocacy for PKU families, driving policy, treatment access, and global rare disease awareness.
36Mar-2026ListenJordan KruseFighting for a Cure for OTCDOTCDThe Brave Little One FoundationMother and advocate shares her son’s near-fatal OTCD diagnosis and co-founding the Brave Little One Foundation.
35Feb-2026ListenDr. Bruce MorimotoAdvancing Hope Through Science: Dr. Bruce Morimoto on v-ATPase Disordersv-ATPasev-ATPase AllianceTranslational medicine expert explains V-ATPase neurological disorders and the promise of personalized oligonucleotide-based therapies.
34Jan-2026ListenBeth McKenzie & Dave RobertsonFamily, Friends, and a Global Village: Beth and Dave’s Caregiving Journeyv-ATPasev-ATPase AllianceA teacher and a medical student share their diagnostic odyssey and caregiving life with a rare V-ATPase condition.
33Jan-2026ListenAna Rita MoreiraA Blueprint for Success: Ana Rita Moreira and the v-ATPase Alliancev-ATPasev-ATPase AllianceV-ATPase Alliance founder transformed family isolation into global advocacy, building biorepositories and uniting families across continents.
32Dec-2025ListenDr. Luis Oliveirav-ATPases: A Fundamental Cellular Enginev-ATPasev-ATPase AllianceNeuroscientist and V-ATPase Alliance co-founder explains cellular dysfunction, research priorities, and his dual role as scientist and parent.
31Dec-2025ListenKristin AndersonThe Power of Connection: Kristin Anderson and the v-ATPase Alliancev-ATPasev-ATPase AllianceV-ATPase Alliance co-founder describes building a worldwide patient community from a single Facebook group for ultra-rare conditions.
30Nov-2025ListenDr. Iazsmin Bauer-VenturaMyositis in Full ViewMyositisThe Myositis AssociationUniversity of Chicago rheumatologist covers myositis clinical care, treatment advances, health inequities, and declining federal research funding.
29Oct-2025ListenHolly JonesThe Power of Representation in the Myositis CommunityMyositisThe Myositis AssociationMyositis Association leader shares her polymyositis journey and advocacy work amplifying women of color in rare disease communities.
28Oct-2025ListenDr. Namita GoyalAdvances in Myositis and Neuromuscular CareMyositisThe Myositis AssociationUCI neurologist discusses advances in myositis care, early recognition, antibody testing, and multidisciplinary approaches to improving outcomes.
27Sep-2025ListenJen SwisherResilience in Navigating MyositisMyositisThe Myositis AssociationPA, professor, and dermatomyositis patient shares years of misdiagnosis while balancing clinical work and life as a working mother.
26Sep-2025ListenEd McGrathLove, Advocacy, and Life with MyositisMyositisThe Myositis AssociationCare partner shares his wife Marilyn’s two-year dermatomyositis diagnostic journey and how community transformed their experience.
25Sep-2025ListenLaurie BoyerMyositis and Turning Grief into PurposeMyositisThe Myositis AssociationMyositis Association board chair channels the loss of her brother to dermatomyositis into national rare disease leadership.
24Aug-2025ListenDr. Sam YoungThe Promise of Adenovirus-based Therapies for Challenging Rare DisordersCACNA1ACACNA1A FoundationUNC gene therapy director discusses adenoviral approaches for rare neurological conditions including Ataxia-Telangiectasia and CACNA1A disorders.
23Aug-2025ListenDr. Kristin BarananoUnderstanding CACNA1ACACNA1ACACNA1A FoundationJohns Hopkins pediatric neurologist explains CACNA1A-related disorders spanning ataxia, epilepsy, and developmental delays.
22Jul-2025ListenJanet VasquezJanet Vasquez on FAM177A1, Resilience, and Finding Strength Through MotherhoodFAM177A1FAM177A1 Research FundMother of two daughters with FAM177A1 disorder shares the diagnostic odyssey, isolation, and importance of trusting parental instincts.
21Jul-2025ListenDr. Fikri BireyDr. Fikri Birey, Pioneering Research for Rare DisordersCACNA1ACACNA1A FoundationEmory neuroscientist uses patient-derived 3D brain organoids to study rare neurological disorders and test CRISPR-based therapies.
20Jul-2025ListenDr. Deb OndrasikDr. Deb Ondrasik on CACNA1A, Advocacy, and HopeCACNA1ACACNA1A FoundationPediatrician and mother navigates CACNA1A caregiving, discussing barriers to diagnosis and building a more compassionate care system.
19Jun-2025ListenDr. Nicole LegroDr. Nicole Legro & FAM177A1-associated DisordersFAM177A1FAM177A1 Research FundOB/GYN resident discusses her role defining FAM177A1 disorder, AI in genetic diagnostics, and early-career rare disease research.
18Jun-2025ListenDr. Clement ChowDr. Clement Chow, Fruit Flies, & FAM177A1-associated DisordersFAM177A1FAM177A1 Research FundUniversity of Utah geneticist uses fruit fly models to screen 1,500+ FDA-approved drugs for FAM177A1 deficiency.
17May-2025ListenDr. Saquib LakhaniDr. Saquib Lakhani, Rare Epilepsies, & CRELD1-associated DisordersCRELD1CRELD1 WarriorsCedars-Sinai pediatric intensivist shares how a single ICU case sparked global collaboration uncovering CRELD1 genetic disorders.
16May-2025ListenDr. Felix ChanDr. Felix Chan, Rare Epilepsies, & CRELD1-associated DisordersCRELD1CRELD1 WarriorsUniversity of Birmingham pharmacologist discusses his path to rare epilepsy research and the mechanisms of CRELD1-related conditions.
15Apr-2025ListenDana BrennerDana Brenner & CRELD1-associated DisordersCRELD1CRELD1 WarriorsParent advocate shares her nearly decade-long diagnostic odyssey before her son’s CRELD1 mutation was identified.
14Apr-2025ListenJonathan VargasJonathan Vargas & Juju & Friends, The CLN2 Warrior FoundationCLN2The CLN2 Warrior FoundationCo-founder of the CLN2 Warrior Foundation shares his son Juju’s Batten disease diagnosis and the power of parent-led advocacy.
13Mar-2025ListenMaura McNamaraMaura McNamara, OMAS Advocate & CaregiverOMASThe OMSLife FoundationMother and healthcare professional shares her daughter’s OMAS journey and the children’s book she wrote to help others understand it.
12Mar-2025ListenDr. Ming LimMing Lim, MD, OMAS ProviderOMASThe OMSLife FoundationEvelina London pediatric neurologist discusses OMAS diagnosis, neuroblastoma’s role, immunotherapy, and international treatment collaboration.
11Mar-2025ListenBhavna Sivanand DiasBhavna Sivanand Dias, OMAS Advocate & CaregiverOMASThe OMSLife FoundationUCLA executive director and OMAS advocate shares her family’s rare disease journey and merging personal and professional advocacy.
10Mar-2025ListenRachel HeilmannRachel Heilmann and The Rory Belle FoundationNARS1The Rory Belle FoundationClinical pharmacist turned founder of The Rory Belle Foundation advocates for NARS1-associated disorder research and family support.
9Feb-2025ListenSunitha MalepatiSunitha Malepati, The CACNA1A Foundation, and The Buffalo InitiativeCACNA1ACACNA1A FoundationFormer law professor and CACNA1A Foundation VP discusses how legal expertise drives systemic change in rare disease care.
8Feb-2025ListenYiwei SheYiwei She, TNPO2 Foundation and Project Baby LionTNPO2TNPO2 FoundationMathematician and AI professional turned rare disease advocate founded the TNPO2 Foundation after her son Leo’s diagnosis.
7Jan-2025ListenChanin & Zeke ZaragozaChanin & Zeke Zaragoza & Their OMAS JourneyOMASThe OMSLife FoundationMother and son share Zeke’s OMAS journey—from diagnosis at 36 months through remission and regaining lost motor function by age seven.
6Jan-2025ListenAdam ClatworthyAdam Clatworthy & CRELD1 WarriorsCRELD1CRELD1 WarriorsCRELD1 Warriors co-founder shares his children’s diagnoses and building a global community for this newly identified rare condition.
5Dec-2024ListenKate VinokurovKate Vinokurov & CureOTCDOTCDCureOTCDCure OTCD founder shares her son Etan’s diagnosis and her advocacy for earlier ammonia testing in newborn emergencies.
4Dec-2024ListenJill HawkinsJill Hawkins & The FAM177A1 Research FundFAM177A1FAM177A1 Research FundFAM177A1 Research Fund founder accelerates treatment development through research partnerships and awareness for this nano-rare disorder.
3Nov-2024ListenCarolina SommerCarolina Sommer & The Born a Hero FoundationFGFRThe Born a Hero FoundationBorn A Hero Foundation CEO and lobbyist shares her daughter’s Pfeiffer syndrome diagnosis and her rare disease policy advocacy.
2Nov-2024ListenJeff KramerJeff Kramer & The Chondrosarcoma FoundationChondrosarcomaThe Chondrosarcoma FoundationChondrosarcoma Foundation founder honors his daughter Shayna’s legacy through awareness and research advocacy.
1Oct-2024ListenMike MichaelisMichael Michaelis & The OMSLife FoundationOMASThe OMSLife FoundationOMSLife Foundation president shares his granddaughter’s OMS diagnosis and the FDA-funded natural history study with nearly 400 registrants.