Patient Empowerment Program: A Rare Disease Podcast

Susannah's Progress: Two Years of ASO Treatment with Dr. Jennifer Bain and Luke Rosen

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:
3:10 Susannah's KIF1A mutation
5:50 Luke and his wife Sally changed their careers to help find a treatment for KIF1A
7:23 How Susannah's family first heard of n-Lorem
8:43 Jen on the Columbia University Medical Center team and the decision to treat Susannah
12:25 Luke's experience bringing his daughter to receive an experimental ASO treatment for the first time
14:30 The positive outcomes and observations of Susannah's treatment
26:15 What Dr. Bain has learned since treating Susannah
29:15 Luke on the impact and importance of the little things
31:15 Advice to other parents
35:40 Being part of a community of nano-rare patients and families

Sneak Peek of the 2024 Nano-rare Patient Colloquium

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.On This Episode We Discuss:
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
Register for the 2024 Nano-rare Patient Colloquium Donate
Biogen.com

The Building Blocks of What's Possible with David Butler, Ph.D.

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/
 

Knowledge is Power: Part 2

The concluding episode of the Knowledge is Power series. 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.
Survey – Patient Empowerment Program Podcast
Register for the 2024 Nano-rare Patient Colloquium
 
On This Episode We Discuss:
Questions we can answer and teach us about health and disease and opportunities to treat more common diseases
What are all the functions of human genes?
Are there gene products that have redundant functions?
Do identical mutations cause identical phenotypes?
n-Lorem can demonstrate that ASOs work on general types of disease challenges

Knowledge is Power: Part 1

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.Survey – Patient Empowerment Program PodcastRegister for the 2024 Nano-rare Patient ColloquiumOn This Episode We Discuss:Two most common words in medicine: Health and DiseaseThe Scientific MethodThe Importance of Single VariablesOrthogonal ThinkingWe Are at a Unique Moment in Medical HistoryGenomicsAdvances in OmicsBiological Networks and AIFacile Collection, Maintenance, Growth and Differentiation in the LabAntisense Technology

Adopting a Rare Son with Paul Compton

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, 2024Make Hope Possible with a donation

Ion Channel Mutations: The Complexities of Treatment

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 ChoiceSurvey – Patient Empowerment Program PodcastRegister for the 2024 Nano-rare Patient ColloquiumOn This Episode We Discuss:Defining Ion Channels and IonsHealth, Homeostasis, and Biological BufferingMultiple forms of the same geneMultiple Isoforms of Gene Product from the same geneNetwork redundancyIon Channels are different

Why We Dose Intrathecally

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/

Behind the ASO Design and Discovery with Konstantina Skourti-Stathaki, Ph.D.

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:Inspired to study biology at the University of CreteLeaving Greece to attend grad school at the University of OxfordAn internship led Nadina to the world of RNALeaving academia to impact livesLessons learned from experiencing drug discovery and developmentThe reason she joined n-LoremDay-to-day activities as Director of ASO Design and discoveryn-Lorem’s internal research management committee to make key decisions regarding programsOngoing research at n-Lorem to enhance allele selectivityStan Crooke on why he pioneered antisense technology

Best of the 2023 Nano-rare Patient Colloquium

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/