Patient Empowerment Program: A Rare Disease Podcast

I Sing the Body Electric

Walt Whitman’s 1855 poem, I Sing the Body Electric, is a celebration of the human body and its intrinsic connection to the universe. During that era, scientists were just beginning to understand that humans are, indeed, electrical beings. Whitman’s deliberate use of the word "electric" in his tribute to the human body was quite remarkable, as the term was not widely used at the time and electricity for human use was still in the experimental stage. With that in mind, the poem’s title serves as both a poetic and scientific statement.
Many have compared great science to art, but we believe it is more akin to poetry. A poet distills intricate concepts, stories, and emotions into the most concise, impactful expression—cutting through the noise to reach the heart and soul of the matter. Similarly, great scientists achieve this with their work. Together, scientists and patients contribute their own verses to the epic poem of understanding known as science.
This episode of the Patient Empowerment Program podcast is proudly sponsored by Hongene Biotech. With more than 26 years of experience in the nucleic acid industry, Hongene is a specialized CDMO and raw materials supplier committed to providing high-quality and high value products and services with the best in class lead times.
Make Hope Possible and donate, today www.nlorem.org/donate
Episode sponsor: Hongene Biotech https://www.hongene.com/
 

Q&A - 2024 Nano-rare Patient Colloquium Recap

Join Stan Crooke, n-Lorem founder, CEO, and host of the Patient Empowerment Program Podcast, alongside Amy Williford, Sr. Director of Communications and Donor Relations, for a special episode.
In this post-colloquium Q&A, Stan recaps the 2024 Nano-rare Patient Colloquium and the progress n-Lorem has made as the organization nears its 5-year anniversary, shares his candid reflections on the event, and dives into additional thoughts and questions that weren’t covered.
Do you have additional questions? Email podcast@nlorem.org.
 
Question Bank:
2:15 How do you think the event went this year?
6:05 Were observations of benefit expected in patients so quickly? 
9:47 What do you expect the number of patients treated to be next year?
10:57 Do you have a message to supporters?
12:30 Were there any disappointments from the colloquium?
13:21 What are the most important things that n-Lorem has learned this year? 
16:13 Do you think n-Lorem’s processes will be outlined every year at the event?
18:05 How is AI incorporated at n-Lorem?
19:10 Does your recently announced deal with GondolaBio reflect the sustainability strategy discussed at the event?
20:53 n-Lorem is celebrating 5 years in 2025. Did you expect the foundation to be where it is today?
21:28 Does n-Lorem plan to expand into Europe and elsewhere?
 
Make hope possible with a donation.

Best of the 2024 Nano-rare Patient Colloquium

This year’s Colloquium spanned two perfect autumn days in beautiful Cambridge, Massachusetts where hundreds of nano-rare community members from around the world gathered under a single roof to learn, connect, and support one another. We’re pleased to announce that the event welcomed over 750 attendees, both in-person and virtually. It’s each and every one of you who made the event such a success! For this special episode, we gathered the ‘Best’ clips from the event for you to learn from and enjoy.
To submit questions for our upcoming Q&A episode, email podcast@nlorem.org. We can’t wait to hear from you!2024 Colloquium Recap
On this episode:
2:07 Daphne Graskewicz-Prado, ASO The Perilous Journey to Diagnosis and Treatment for Nano-rare
9:35 Ryan Strankowski and Dr, Nelson Leung, Ryan’s Journey and Clinical Experience
15:55 Luke Rosen, Megan Hedstrom, and Dr. Jennifer Bain, Susannah’s & Sloane’s Journeys and Unique Clinical Experiences
21:49 Kelley Dalby and Dr. Olivia Kim-McManus, Connor’s Journey and Clinical Experience
30:00 Dr. Julie Ziobro and Dr. Horacio Kaufmann, Building a Nano-rare Network and Managing Institutional Challenges
37:38 Dr. Andrew Lo and Dr. Alan Lotvin, Innovative Ways to Support Nano-rare
42:30 Dr. Toby Ferguson, Dr. Liz Berry-Kravis, and Dr. Eugene Shneider, Changing the World One Patient at a Time
47:30 Dr. Kate Dawson, What It Means to be a Parter with n-Lorem for Nano-rare
50:23 Dr. Stanley Crooke, Providing Hope for a Better Future, One Nano-rare Patient at a Time

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)
Donate
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