By n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen)
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2929 ratings
The podcast currently has 63 episodes available.
Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 🎉 Susannah's story was the first shared on the Patient Empowerment Program podcast. Now, two years later, her father, Luke Rosen, and her physician, Dr. Jennifer Bain, detail Susannah’s remarkable progress since beginning regular treatments—highlighting improvements in her motor skills, cognition, energy, and more!
Susannah's Story (May 25, 2022)
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2024 Nano-rare Patient Colloquium
On This Episode We Discuss:
Take a glimpse behind the curtain as we offer you a sneak peek of the 2024 Nano-rare Patient Colloquium. We’re thrilled to welcome back longtime biotech journalist and current Features Editor of The Transmitter, Brady Huggett, to the podcast. In an interview with n-Lorem founder and CEO Stan Crooke, they preview the upcoming Colloquium, diving into key topics that will shape the conversation at the event and around nano-rare diseases in the year ahead.
2:21 How many Investigational New Drugs (INDs) has n-Lorem filed?
5:22 How many patients treated with an n-Lorem ASO have been on therapy long enough to observe a benefit?
6:50 What does it mean for a patient like Susannah who has experienced a significant decrease in behavioral arrest incidents since receiving treatment
9:39 Providing ASOs to patients earlier
13:25 INDs for the ‘n-of-few'
23:15 Introducing Whole Genome Sequencing (WGS) for all newborns
29:05 Stan’s perspective on leadership
33:50 n-Lorem's goals for the 2024 Nano-rare Patient Colloquium
Biogen.com
Hongene Biotech is a producer of RNA building blocks – the first step for what’s possible in RNA drug-discovery and development. David Butler, Ph.D., Chief Technology Officer of Hongene, joins the Patient Empowerment Program to discuss why Hongene aims to help make RNA medicines accessible and affordable for patients everywhere, regardless of prevalence.
On this episode we discuss:
2:40 Hongene Biotech and what do they do
8:09 The early days of nucleoside building blocks and maturation of Hongene
12:00 Hongene is a strong supporter of n-Lorem. Why?
15:30 David’s origins in the chemistry field
17:38 Incremental progress that has been made in science and manufacturing
Links:
2024 Colloquium - https://www.nlorem.org/nano-rare-patient-colloquium-2024/
Make Hope Possible with a Donation - https://www.nlorem.org/donate/
Hongene - https://www.hongene.com/
On This Episode We Discuss:
The knowledge we are gaining at n-Lorem has even more value than benefiting nano-rare patients and their families. These insights will enable scientists to discover new therapeutic targets for both common and rare diseases, fundamentally changing the way we approach health and disease.
On This Episode We Discuss:
Paul Compton and his wife Andrea chose to start a family through adoption. Unknown to anyone, one of their adopted boys, Taeson, was the inheritor of DRPLA, a progressive brain disorder caused by a mutation in the ATN1 gene. Determined to find a treatment and advocate for their son and others with the disease, the Comptons established CureDRPLA. In early 2024, Taeson received his initial treatment with an ASO discovered and developed by n-Lorem. Paul discusses his family’s journey and shares his observations of Taeson's progress since beginning treatment.
In This Episode We Discuss:
3:05 – Paul's origins in business and finance
4:32 - Investment banking is different than traditional banking
7:27 – Opposites attract – Meeting his wife, Andrea, and starting a family through adoption
10:06 – Paul’s son, Tayson, has a progressive brain disorder known as DRPLA, which is caused by a mutation in the ATN1 gene; Discovering the idea of n-Lorem
16:03 – Tayson’s journey to a diagnosis
23:00 – The deterioration of his abilities over the years
25:00 – The progress Paul has observed in his son since initial treatment
Links:
Take our survey and receive an n-Lorem Store coupon code
Register for the 2024 Nano-rare Patient Colloquium / October 30-31, 2024
Make Hope Possible with a donation
Mutations affecting ion channels are the most common cause of 'applications for treatment' submitted to n-Lorem. These channels regulate the passage of essential electrically charged ions, like sodium, potassium, calcium, and chloride, into cells. Alas, ion channels pose a significant challenge in the ASO discovery process, as there is little room for error due to the need for highly allele-selective ASOs to achieve success. Let’s 'dive into the channel' and explore the complexities of treating patients with ion channel mutations.
Recently a report on one of our patients with an ion channel mutation was published in Endpoints News highlighting the power of our technology for these disorders. Check it out by clicking the link below.
Endpoints News (endpts.com) A teenager faced constant seizures. Could a drug developed just for him stop them?
Podcast Awards - The People's Choice
Survey – Patient Empowerment Program Podcast
Register for the 2024 Nano-rare Patient Colloquium
On This Episode We Discuss:
The affected organs of our patients determine the route of administration for an ASO, as certain routes can better target specific organs and offer the best potency. The central nervous system (CNS) is the most common target we encounter, and for this, we dose intrathecally. Let’s dive into how this is done and the particulars of why this approach is used.
The Human Body and Barriers
The Four Tubes – Enteral, Respiratory, Urinary, and the Central Nervous System (CNS) tube
How The Body Constructs Barriers
What is Cerebrospinal Fluid (CSF)
The Blood-Brain Barrier (BBB)
The Types of Molecules That Are Admitted to and Excluded From the CNS
Intrathecal Administration of Drugs
Outwitting the Blood-Brain Barrier
Survey Link – Patient Empowerment Program Podcast: https://forms.office.com/r/1ik9WNs7QB
Register for the 2024 Nano-rare Patient Colloquium: https://www.nlorem.org/nano-rare-patient-colloquium-2024/
Konstantina Skourti-Stathaki leads the n-Lorem research team behind the design and discovery of ASOs. Nadina, as we at n-Lorem call her, has a passion for helping patients and an excitement for science that is contagious. She joins the Patient Empowerment Program podcast to discuss her day-to-day activities as n-Lorem’s Director of ASO Design and Discovery, the ongoing research her team is conducting, and more!
On This Episode We Discuss:
We’re recapping the 2023 Nano-rare Patient Colloquium in this special “Best of” episode. For the Colloquium, we gathered the nano-rare community under one single roof for a full day of presentations and panels with experts, partners, supporters, and patients. So, we are bringing some of the top moments directly to your speakers. Discover the origins and aspirations of n-Lorem and Columbia University's Silence ALS initiative, visualize the journey of a nano-rare patient with the help of an emotional story told by a loved one, and imagine a future where commercial drug discovery organizations can focus on the world’s rarest diseases and more all in this one episode. To access the entire event, visit https://www.nlorem.org/nano-rare-patient-colloquium-2023/
Register for the 2024 NRPC: https://www.nlorem.org/2024-nano-rare-patient-colloquium-registration-form/
The podcast currently has 63 episodes available.
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