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Rare Awareness Radio

Rare Awareness Radio

By: Rare Awareness Radio
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 Shedding light on underrepresented diseases and the efforts of non-profit foundations working tirelessly to support those affected.All rights reserved Economics
Episodes
  • EP 18 Clement Chow

    EP 18 Clement Chow
    Jun 3 2025
    In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with Dr. Clement Chow, Associate Professor of Human Genetics at the University of Utah School of Medicine. Dr. Chow and his team are doing groundbreaking work in rare disease research using an unexpected but powerful model: the fruit fly. We dive into Clement’s recent drug repurposing screen focused on FAM177A1 deficiency, a rare neurodevelopmental disorder. Hear how his team screened over 1,500 FDA-approved drugs using a fly model exhibiting a lethal phenotype—an innovative, cost-effective approach that could fast-track treatments for rare disease communities. Clement shares how his lab collaborates closely with patient foundations like the FAM177A1 Research Fund, how symptom management can be a gateway to deeper understanding, and what the future holds for applying discoveries across genetically linked rare diseases. Whether you're a scientist, advocate, or rare disease family member, this episode offers hope, insight, and a look at the power of creative research partnerships. 🎧 Listen now and learn how a tiny fly could make a world of difference. Special thanks to Jill Hawkins and the FAM177A1 Research Fund for making this episode possible. Link to Jill's episode: https://on.soundcloud.com/Xj9lYExwMcDxLJRj9f #RareDisease #FAM177A1 #ClementChow #DrugRepurposing #FruitFlyResearch #TranslationalScience #RareAwarenessRadio
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    28 mins
  • EP 17 Saquib Lakhani

    EP 17 Saquib Lakhani
    May 24 2025
    🔬 “From ICU to Genome: Dr. Saquib Lakhani on CRELD1, Early Detection & Rare Disease Advocacy” | Rare Awareness Radio 🎧 In this powerful episode of Rare Awareness Radio, we sit down with Dr. Saquib Lakhani, Director of the Early Detection Program at Cedars-Sinai Guerin Children’s and a leading pediatric critical care physician. Dr. Lakhani shares how a single ICU case launched a global collaboration that uncovered the link between CRELD1 and a new spectrum of rare genetic disorders involving seizures, developmental delay, and cardiac irregularities. We explore the diagnostic odyssey faced by families, the promise of genomic sequencing, the impact of early detection, and the inspiring role of patient communities like CRELD1 Warriors. 💡 Whether you're a researcher, clinician, advocate, or parent — this episode highlights how science, empathy, and global teamwork are transforming the future of rare disease care. 🧬 Topics covered: Understanding CRELD1 and its clinical implications The importance of early molecular diagnosis Collaborating across labs, hospitals, and continents Supporting families through the diagnostic journey The role of AI and emerging technologies in rare disease research 📍 Listen now and help us raise awareness — because every rare story deserves to be heard. #RareDisease #CRELD1 #Genomics #PediatricCare #EarlyDetection #RareAwarenessRadio #GeneticResearch #PatientAdvocacy #SaquibLakhani #CedarsSinai #PrecisionMedicine
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    33 mins
  • EP 16 Felix Chan

    EP 16 Felix Chan
    May 10 2025
    In this powerful episode of Rare Awareness Radio, we sit down with Dr. Felix Chan, Assistant Professor of Pharmacology at the University of Birmingham and a leading voice in rare epilepsy research. Dr. Chan shares his remarkable journey from Indonesia to the U.K. and U.S., and how a life-changing encounter with a patient during his Ph.D. sparked his mission to better understand the devastating impact of rare epilepsies like CRELD1. We explore the multi-organ effects of this ultra-rare genetic condition, the importance of metabolic research in epilepsy, and how Dr. Chan’s lab is using patient-derived cell models, dietary approaches, drug repurposing, and even gene therapy to uncover new treatment possibilities. More than just a researcher, Dr. Chan is a fierce advocate for patient engagement, public policy change, and international collaboration. He reminds us that rare disease research can unlock insights that benefit the entire medical community. 🔬 Topics covered include: What makes CRELD1 so complex and urgent to study The role of metabolism and nutrition in rare epilepsies The importance of cross-disciplinary and global collaboration Patient-led research and the UK’s PPIE (Patient and Public Involvement and Engagement) model Advocacy and raising awareness with policymakers and scientists alike 🎧 Listen now to learn how one researcher’s global journey is helping to unlock hope for families around the world.
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    28 mins
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