Patient Empowerment Program: A Rare Disease Podcast

• A Conversation with the 2025 Heroes of n-Lorem

  The ‘Hero of n-Lorem’ Award is a recognition given to an individual volunteer or organization that has made substantial contributions to n-Lorem and our nano-rare patients. This honor recognizes our ‘unsung heroes’, those who have gone the extra mile, taken time away from their schedules and families and leveraged their expertise and contacts to support n-Lorem’s mission to provide hope and potential help to nano-rare patients. On this episode of the Patient Empowerment Program podcast, we welcome three of our five 2025 Heroes for a conversation about their inspiration to take action: - Wendy Erler, Senior Vice President, Patient Affairs, Sarepta Therapeutics - Richard S. Geary, Ph.D., Chief Development Officer, Executive Vice President of Development, Ionis Pharmaceuticals - Scott Henry, Ph.D., DABT, SVP, Nonclinical Development, Ionis Pharmaceuticals     Sponsors: ChemGenes Hongene Biotech   NRPC25: https://www.nlorem.org/nano-rare-patient-colloquium-2025/   

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• Meet Rescue 7: Firefighters Serving Patients

  Rescue 7 is dedicated to serving the most vulnerable patient communities with care, compassion, and critical support. Inspired by the traditions of Fire Departments, Police Departments, and Military service worldwide, their programs go beyond emergency response. From patient transportation to sibling support initiatives, as well as emergency disaster relief efforts — Rescue 7 is there. Always ready and there when you need them. Rescue 7 is founded by n-Lorem families. They will host the Family Club at the 2025 Nano-rare Patient Colloquium. Families are invited to stop by, hang out, or drop off their children for fun, firefighting-themed activities while caregivers attend the event. Get to meet the first responder volunteers, Luke Rosen, and Raena and Frank Vrtochnick in this episode of the Patient Empowerment Program Podcast!

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• Hope for Kinsley: Facing TUBB4A with Courage and Care

  Sarah and Ryan Marta, proud parents of three girls from Central Texas, began noticing that their middle daughter, Kinsley, was slow to reach mobility milestones in her early years. During a visit to a friend’s house, concerns about her vision were raised, prompting a check-up. What began as a single hospital visit quickly turned into many. An MRI revealed abnormal levels of white matter in Kinsley’s brain—leading to the devastating and confusing diagnosis of a nano-rare neurodegenerative disease called TUBB4A. Looking high and low for help, they eventually discovered n-Lorem, a non-profit that discovers and develops personalized medicines for extremely rare individuals like Kinsley. Kinsley is lively and cheerful with infectious laughter and a bright smile that lights up every room. She loves singing at the top of her lungs, swinging in the fresh air, and spending endless hours playing with her sisters and cousins. Kinsley uses a mobility walker to get around, but one of her biggest dreams is to run. When asked what she’d do after running, she simply says, “I’d run some more.”   On This Episode We Discuss: 2:35 - Early signs of Kinsley’s disease and her TUBB4A diagnosis 4:00 - Fight or flight – Sarah and Ryan did all they could to seek help 7:30 - Defining TUBB4A 9:40 - Kinsley's challenges today 11:00 - The impact rare diseases have on families 14:40 – Kinsley wants to do more, and an n-Lorem medicine provides optimism   Links: 2025 Nano-rare Patient Colloquium Agenda and Registration - https://www.nlorem.org/nano-rare-patient-colloquium-2025/  Donate to n-Lorem - https://www.nlorem.org/donate/ Hongene Biotech - https://hongene.com/ 

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• New Insights into Genetically Caused Developmental Delays

  Emerging observations from our work at n-Lorem suggest that not all developmental delays are permanent. In the absence of structural damage—such as microcephaly, congenital deformities of the skull or bones, or organ malformations—there appears to be potential for improvement in movement disorders, cognition, autistic features, and more. These insights point to a level of resilience and plasticity in the central nervous system that may be greater than previously believed, and they are beginning to reshape how the scientific community understands the brain. On This Episode We Discuss: 2:12 The idea that a missed or delayed developmental step can lead to permanent deficits might not be true 3:30 Observations that support the conclusions that developmental deficits aren't permanent unless they cause structural damage, like microcephaly, bone or skull deformities, or organ malformation 5:55 ASO treatment can dramatically enhance muscle strength 7:54 Abnormal movements and the inability to control movement 11:30 The damage seizures cause lead to further developmental delays 12:46 We’ve observed improvement in those with ataxia, or dizziness 14:25 Improved cognition observed in patients with various mutations, genes, and forms of intellectual disability 15:00 Recovery of speech and improvements in autistic features, such as intellectual disability, and other associated manifestations 16:10 Severe neuropathic pain makes development difficult, and reduction in pain has been observed 16:40 Ongoing issues with autonomic nervous system control—including blood pressure, heart rate, breathing, light response, and digestive and urinary function—are debilitating and make normal development nearly impossible 18:00 The implications of these observations are transforming the scientific community’s understanding of the brain and central nervous system   Links: 2025 Nano-rare Patient Colloquium Agenda and Registration - https://www.nlorem.org/nano-rare-patient-colloquium-2025/  Donate to n-Lorem - https://www.nlorem.org/donate/  Hongene Biotech - https://hongene.com/ 

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• Research to Advance ASO Technology at n-Lorem

  At n-Lorem, every investment decision carries real weight by directly affecting the nano-rare patients we serve. We think very deeply about each decision of how to invest the limited and precious dollars that we have. But what about investing in basic research to advance antisense oligonucleotide (ASO) technology for the future? Certainly, most of the money should and is being put towards creating ASOs to help patients in need today. Meanwhile, it is also our belief that we must invest to continue innovating and, in this episode, we explore the research occurring at n-Lorem today that will lead to better treatments for more nano-rare patients tomorrow. On this episode we discuss: - ASO technology is still evolving unlike other validated drug discovery technologies - Nano-rare patients need more from ASO technology - Reasons n-Lorem are unable to help more patients Loss of function mutations Mutations that cause dysfunction of an organ to which ASOs distribute at only high doses Innate immune activation Challenges in creating allele-selective ASOs - Solutions to these challenges are possible and we know how to do it Advances in loss of function mutations Targeted delivery to muscle, the immune system, the gut and heart Controlling innate immune activation Enhanced allele-selectivity   Links: Colloquium - https://www.nlorem.org/nano-rare-patient-colloquium-2025/ Donate - https://www.nlorem.org/donate/ 

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