『Patient Empowerment Program: A Rare Disease Podcast』のカバーアート

Patient Empowerment Program: A Rare Disease Podcast

Patient Empowerment Program: A Rare Disease Podcast

著者: n-Lorem Foundation (Dr. Stan Crooke Amy Williford Kim Butler Andrew Serrano Jon Magnuson and Kira Dineen)
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Join the nano-rare disease community! Interviews features leading physicians, scientists, biotech experts, and patient advocates. Lessons teach core concepts about drugs. Our host Dr. Crooke has led the creation of antisense technology and his foundation, n-Lorem, is using this powerful technology to discover, develop, and provide personalized experimental antisense oligonucleotide medicines to nano-rare patients for free, for life. n-Lorem is a non-profit organization established to apply the efficiency, versatility and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat patients (less than 30 patients) that are the result of a single genetic defect unique to only one or very few individuals. The advantage of experimental ASO medicines is that they can be developed rapidly, inexpensively and are highly specific. n-Lorem was founded by Dr. Stan Crooke, who founded IONIS Pharmaceuticals in 1989 and, through his vision and leadership, established the company as the leader in RNA-targeted therapeutics. The podcast is produced by n-Lorem Foundation and hosted by Dr. Stanley T. Crroke, who is the Founder, CEO and Chairman. Our videographer is Jon Magnuson. Our producers are Kira Dineen, Jon Magnuson, Kim Butler, and Amy Williford. To learn more about n-Lorem, visit nlorem.org. Contact us at podcast@nlorem.org.Copyright 2024 n-Lorem Foundation 生物科学 科学 衛生・健康的な生活 身体的病い・疾患
エピソード
  • Research to Advance ASO Technology at n-Lorem
    2025/07/09

    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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    24 分
  • Commitment to Safety First: The DSMB
    2025/06/25

    The Data Safety Monitoring Board (DSMB) is composed of distinguished, independent experts in antisense oligonucleotide (ASO) technology, clinical trial design and evaluation, and drug development. Many are also dedicated clinicians who care for patients with rare diseases. This board provides unbiased safety oversight by reviewing accumulated data from all investigator-initiated studies involving n-Lorem’s ASO medicines.

    n-Lorem's DSMB is chaired by Dr. Eugene Schneider, Executive Vice President and Chief Clinical Development and Operations Officer at Ionis Pharmaceuticals.

    On This Episode We Discuss:

    • 2:20 – What is the Data Safety Monitoring Board at n-Lorem?
    • 6:50 – Monitoring the data from each and every treated n-Lorem patient is essential
    • 9:40 – The DSMB consists of a collection of physicians and other experts
    • 13:20 – As the number of n-Lorem patients grows, the DSMB’s responsibilities have expanded significantly—yet members remain deeply committed to supporting the mission
    • 17:05 – The DSMB’s goal is to avoid any ASO-related serious adverse events (SAEs) and minimize adverse events
    • 19:20 – During his time as Chair of the DSMB, Eugene has learned lessons in patience and humility
    • 21:00 The judgements of monitoring boards can and will affect lives

    Links: n-Lorem 2025 Nano-rare Patient Colloquium: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

    Donate to support n-Lorem programs: https://www.nlorem.org/donate/

    Hongene Biotech: https://www.hongene.com/

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    31 分
  • Connor Gooley's Story: A First for TUBB4A Treatment
    2025/06/11

    Connor Gooley is the first patient ever treated with an ASO for TUBB4A-Related Leukodystrophy, a condition that severely disrupts his nervous system, slows nerve impulses, and impairs his fine motor skills. As a result, Connor cannot speak, walk, sit up on his own, or chew well. Still, he manages to army crawl, propel himself in his wheelchair, and use a gait trainer. He’s also remarkably resilient—rarely crying or complaining despite the daily challenges he faces.

    In this episode of the Patient Empowerment Program, Connor’s parents, Diana and Mike, share their family’s journey from diagnosis to treatment and reflect on their observations of Connor after more than six months on an n-Lorem discovered and developed treatment.

    On This Episode We Discuss:

    1:33 Shaking eyes were the first sign of Connor’s rare disease

    4:10 An MRI revealed little to no myelin, leading to whole genome sequencing and an eventual TUBB4A genetic mutation diagnosis

    7:10 Connecting with another family with the same mutation

    10:00 Finding n-Lorem through a ‘seeking patient candidates’ advertisement in a Global Genes annual report

    12:26 Contextualizing Connor’s TUBB4A mutation in simple terms

    21:19 How rare diseases affect families and creating a new normal

    27:41 Receiving treatment in Boston and contemplating the decision to agree to an experimental treatment for their son

    32:00 Observations after 6 months on treatment

    35:45 n-Lorem has given the Gooley family hope for a better future for Connor

    Links:

    Hongene Biotech: https://www.hongene.com/

    Donate to n-Lorem / Support nano-rare: https://www.nlorem.org/donate/

    n-Lorem 2025 NRPC: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

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    47 分

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