Patient Empowerment Program: A Rare Disease Podcast

By n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen)Science Medicine Health & Fitness Education Life Sciences

Patient Empowerment Program: A Rare Disease Podcast episodes

September 10 Sneak Peek of the 2026 Nano-rare Patient Colloquium
A lot can happen in a year, and at n-Lorem, this past year has brought important milestones, new developments, and plenty to discuss at the upcoming 2026 Nano-rare Patient Colloquium.
In this special Colloquium preview episode, Brady Huggett, editor-in-chief of Asimov Press and longtime moderator of the Colloquium’s patient experience panel, returns to sit down with n-Lorem CEO Stan Crooke. Together, they reflect on the past year, explore some of the topics likely to take center stage, and preview what attendees can expect at the 2026 Nano-rare Patient Colloquium.

On this episode:
2:28 – What is a day in the life of an n-Lorem research team member?
9:08 – How many ASOs are required to move into tolerability studies and what may cause a program to be terminated
12:05 – Improvements in efficiencies, bringing down costs, and growth have allowed n-Lorem to respond to the extraordinary demand
13:14 – Discussing the creation of individualized ASOs for two boys with SCN2A mutations and their potential to help others with the same mutation and single nucleotide variant
25:00 – Thoughts on the FDA’s Plausible Mechanism Framework
29:00 – Commercial opportunities will not alter the n-Lorem charitable arm but will provide sustainable revenues to charitably treat more patients
36:05 – What are the Limits of Hope and expanding those limits
37:54 – Empathy is an expanded sense of self, and a sphere of oneness is felt at the Colloquium

Links:
2026 Nano-rare Patient Colloquium
Donate to n-Lorem

Episode and NRPC Gold Sponsors:
ChemGenes
GondolaBio
Hongene Biotech

48 min
August 26 Realities of the Nano-rare: Siblings, Unfairness and Hard Truths with Sally Jackson
Sally Jackson is a former actress, cookbook co-author, and mother of Susannah. In this Realities of the Nano-rare episode, Sally lets us into her family’s bubble, speaking candidly about the deeply complex and often terrifying realities of navigating KIF1A-associated neurological disorder. From helping Susannah's sibling understand the harsh consequences of her disease to confronting distress, uncertainty, and the profound unfairness of it all, Sally shares the difficult truths her family has faced and continues to carry and fight through.

On this episode:
4:00 – Sally and her husband's story first began in a college acting class
9:55 – Forming a career alongside celebrity chef Bobby Flay
13:30 – Family of four including Nat and Susannah
16:55 – Early abnormalities and a diagnosis initially withheld from the family
22:50 – The fight for Susannah and others with KIF1A post-diagnosis
29:24 – Dealing with the seriousness of a degenerative condition while trying to live a normal life
34:00 – Enduring relentless seizures
38:31 – The reality that not even doctors know what's best and often experiment to attempt to relieve rare disease symptoms, and the unfairness of rare disease
45:00 – Informing siblings about the severity and consequences of rare disease
57:00 – Changing the course of their life to advocate to the fullest extent
1:02:25 – After the long fight, there was an ASO
1:07:30 – After years of treatment, Susannah had to stop, a crushing blow that was followed by worsening symptoms before once again resuming treatments

Links:
Nano-rare Patient Colloquium 2026
Support n-Lorem with a donation
Today's Sponsor - Hongene
1 hr 20 min
August 05 Silencing ALS with Neil Shneider
Silence ALS is an initiative that brings together Columbia University and n-Lorem to support the discovery, development, and treatment of individuals living with nano-rare genetic forms of amyotrophic lateral sclerosis (ALS) through personalized antisense oligonucleotide (ASO) medicines. Learn more about this initiative and one of its co-founders, leading ALS physician-scientist Dr. Neil Shneider in this episode of the Patient Empowerment Program podcast.

On this episode we discuss:

4:00 – Developing tools to discuss with patients about the real and scary outcomes of ALS, and changing the course of a neurogenerative and fatal disease
6:52 – Experimental ASO treatments for genetic forms of ALS
9:30 – The creation of Silence ALS to treat extremely rare forms of genetically caused ALS like CHCHD10 and TARDBP and moving the collaboration forward
12:36 – Serving present day and future patient populations with the Silence ALS initiative
17:30 – Learnings gained from treated nano-rare ALS patients may translate to broader ALS groups
22:33 – To ALS patients and families, hope is powerful and makes a difference

Links:
Donate - https://www.nlorem.org/donate/
NRCP26 - https://www.nlorem.org/nano-rare-patient-colloquium-2026/
Hongene - https://www.hongene.com/
30 min
July 15 Miracles of Science: Antisense Technology
The final chapter of our Miracles of Science series has arrived! Today’s miracle is an important one: Antisense Technology, perhaps you've heard of it 😉
Every day, our patients benefit from what can only be described as miracles of science. Not the fairytale kind. Not wishes granted overnight. These miracles are earned by humans. Built over centuries by scientists whose discoveries stacked, evolved, and refined over time. They are the result of human curiosity, persistence, and an ever-deepening understanding of biology, and they’ve fundamentally changed how we see the world and treat disease.
This series has pulled back the curtain on the scientific and medical breakthroughs that make n-Lorem possible, including Genomic, Stem Cells, the RNA World and Antisense Technology. Their importance is consequential, and without these breakthroughs, n-Lorem would not exist today.

On this episode we discuss:
- The Evolution of the Drug Discovery and Development Industry
- The Rise of Small-Molecule Drug Discovery
- New Platforms That Expanded the Possibilities of Drug Discovery
- Why Antisense?
- How Ionis Created ASO Technology

Links:
Nano-rare Patient Colloquium 2026: https://www.nlorem.org/nano-rare-patient-colloquium-2026/
Support n-Lorem: https://www.nlorem.org/donate/

Episode sponsors:
Hongene: https://www.hongene.com/
Chemgenes: https://www.chemgenes.com/
35 min
July 01 The Personal Rare Disease Journey Behind CNBC Cures with Becky Quick
We’re celebrating our 100th episode with a special guest, CNBC Squawk Box’s own Becky Quick! Becky’s daughter Kaylie lives with SYNGAP1, and their family’s rare disease experience inspired the creation of CNBC Cures, an initiative bringing together families, doctors, investors and regulators with one goal in mind: helping to raise awareness of, and improve patient outcomes for, the 30 million Americans suffering from rare diseases. Get to know Becky and her daughter Kaylie’s story in this episode of the n-lorem Patient Empowerment Program podcast.
Sign up for the CNBC Cures Newsletter: https://www.cnbc.com/cnbc-cures-newsletter/

On this episode we discuss:
1:25 – Celebrating 100 episodes of the n-Lorem Patient Empowerment Program podcast
6:40 – Welcome Becky Quick; CNBC Anchor and mother of a Kaylie
10:35 – Becky’s journalistic origins and path
16:13 – Launching CNBC Cures and the need to help others facing rare diseases
23:00 – Navigating life with the challenges caused by rare disease
29:03 – Kaylie’s SYNGAP1 diagnostic odyssey
42:10 – Tending with the loss of control
43:56 – Non-verbal does not mean lacking understanding
48:30 – SYNGAP1 explained
59:01 – Hope is powerful
-----
Make hope possible with a donation in support of nano-rare patient programs: https://www.nlorem.org/donate/
This episode is made possible thanks to our sponsors: Learn more about Chemgenes - https://www.chemgenes.com/
1 hr 10 min
June 17Patient Story: Understanding ALS with Bill O'Sullivan and Neil Shneider, M.D., Ph.D.
In this episode of the n-Lorem Patient Empowerment Program Podcast, Dr. Stan Crooke is joined by n-Lorem patient Bill O’Sullivan and Dr. Neil Shneider to discuss Bill’s experience living with a rare inherited form of ALS caused by a CHCHD10 mutation. Bill shares his path to diagnosis, the impact of genetic testing, and his experience receiving a personalized antisense oligonucleotide (ASO) treatment designed to target the underlying cause of his disease. Together, they discuss how advances in genetics and precision medicine are creating new possibilities for patients and families affected by rare neurodegenerative diseases.
On this episode we discuss:
00:00 Introduction
00:58 Meet Bill O’Sullivan and Dr. Neil Shneider
03:17 Family history and inherited ALS
06:37 Diagnosis and discovery of CHCHD10
10:02 Early symptoms and diagnostic challenges
20:20 Beginning personalized ASO treatment
22:33 Treatment results and disease stabilization
23:42 Looking ahead: earlier intervention and future generations
27:57 Expanding treatment opportunities through genetic research

Links:
This episode is made possible thanks to our sponsor ChemGenes
Donate to n-Lorem and Make Hope Possible
Register to attend the 2026 Nano-rare Patient Colloquium
53 min
June 03Miracles of Science #3: RNA World Part 3
In this episode of the n-Lorem Patient Empowerment Program Podcast, host Stan Crooke explores the fascinating world of RNA biology and explains how different types of RNA work together inside cells. He breaks down the roles of ribosomal RNA, messenger RNA, transfer RNA, and several regulatory and processing RNAs, showing how they help convert genetic information into proteins and control cellular function. The episode also highlights how advances in RNA science are helping the n-Lorem Foundation develop individualized treatments for nano-rare patients and their families.
0:00 – Introduction to the mission of n-Lorem and hope for nano-rare patients and families.
0:51 – Stan Crooke introduces the podcast and explains n-Lorem’s groundbreaking treatment model.
1:12 – Overview of the RNA world and why different RNA types are essential to biology.
1:48 – Introduction to translational RNAs and their role in making proteins.
2:16 – Explanation of ribosomes and how they translate genetic code into proteins.
5:12 – Discussion of pre-ribosomal RNA processing and the role of the nucleolus.
7:48 – Ribosomes are compared to the Enigma machine for decoding biological information.
9:29 – Overview of transfer RNAs (tRNAs), codons, and amino acid delivery.
12:23 – Why decoding the genetic code was a landmark scientific breakthrough.
14:18 – How tRNAs mature through RNA processing and splicing mechanisms.
16:03 – Summary of how mRNA, rRNA, and tRNA work together during translation.
18:37 – Introduction to processing RNAs and spliceosome machinery.
21:15 – Explanation of U4 RNA and its role in RNA quality control and disease.
23:00 – Overview of snoRNAs and their role in ribosomal RNA maturation.
24:06 – Discussion of Cajal body RNAs and RNA modification systems.
25:01 – Introduction to regulatory non-coding RNAs and antisense RNAs.
27:50 – Overview of circular RNAs and their potential regulatory functions.
28:51 – Explanation of microRNAs and how they regulate protein production.
29:59 – Closing thoughts on regulatory RNAs and cellular control systems.
37 min
May 27Miracles of Science #3: RNA World Part 2
In Part 2 of the n-Lorem Patient Empowerment Program podcast Miracles of Science series on RNA, Dr. Stan Crooke further explores the fascinating “RNA world,” explaining how RNA molecules are processed, protected, modified, and used to manage cellular function. The episode breaks down concepts like pre-RNAs, poly-A tails, 5’ caps, RNA splicing, and the multiple “codes” that make RNA dynamic and information-rich — foundational science that helps power antisense therapies for nano-rare patients and helps make the RNA world a true "Miracle of Science," allowing n-Lorem to fulfil its mission.
Shownotes:
0:00 — Introduction to n-Lorem Overview of the n-Lorem Foundation mission and support for nano-rare patients and families.
0:15 — Podcast & Sponsor Introduction Dr. Stan Crooke introduces the podcast and acknowledges sponsor ChemGenes.
1:17 — Entering the “RNA World” Dr. Crooke introduces RNA biology and explains why RNA science is foundational to antisense therapies.
1:31 — What Are Pre-RNAs? Explanation of immature “pre-RNAs” and how they contain instructions for cellular processing and transport.
3:31 — RNA Processing & Adding Nucleotides Discussion of how RNAs are trimmed and modified during maturation.
4:03 — Poly-A Tails Explained What poly-A tails are, why they are added to messenger RNA, and how they protect RNA molecules.
7:07 — Protecting RNA from Degradation How cells chemically protect both ends of RNA molecules.
9:00 — The 5’ Cap Introduction to RNA “caps” and their role in identifying and stabilizing messenger RNA.
11:02 — RNA Splicing How cells remove unnecessary RNA segments (introns) and reconnect useful coding regions.
14:06 — RNA Structural Codes How RNA folds into structures and why shape is important for function.
16:09 — Chemical Modification Codes Overview of RNA chemical modifications and how they add another layer of cellular regulation.
18:22 — RNA as Cellular Management Dr. Crooke compares RNA molecules to executives and middle managers directing cellular operations.
19:12 — RNA & Antisense Technology Why understanding RNA biology is critical for developing antisense therapies for nano-rare diseases.
22:08 — DNA vs. RNA Analogy DNA as the “king” and RNA as the active workforce managing the affairs of the cell.
24:10 — The Dynamic Nature of RNA How RNA constantly changes structure, interactions, and function over time.
26:14 — Closing Thoughts Final overview of RNA versatility and its role in cellular communication and regulation.
26:54 — About n-Lorem Information about n-Lorem’s mission to provide personalized experimental treatments free for life to nano-rare patients.
28 min
May 20 Miracles of Science #3: RNA World Part 1
In this episode of the n-Lorem Patient Empowerment Podcast, Stan Crooke explores the “RNA World” — the groundbreaking field of RNA biology that helped make modern genetic medicine possible. Drawing from personal experience, he shares the scientific battles surrounding early RNA discoveries, the development of antisense technology, and how decades of persistence ultimately led to life-changing therapies for nano-rare patients. Along the way, Stan explains how evolution, molecular biology, and information systems inside cells shape human health and the future of medicine.

00:00 – Introduction & Sponsor Message
Stan introduces the episode and explains the importance of the RNA World to nano-rare medicine.
02:15 – Why RNA Science Changed Everything
How RNA discoveries became foundational to modern genetic therapies.
05:10 – The Scientific Wars Over Small Nuclear RNAs
The fierce debates among scientists about whether snRNAs were real or experimental artifacts.
09:40 – What Science Is Really Like Behind the Scenes
Stan discusses the emotional and competitive nature of scientific discovery.
13:00 – Antisense Technology & the Road to Spinraza
How decades of RNA research led to breakthrough treatments for spinal muscular atrophy.
17:30 – Lessons From Evolution
Why evolution reuses successful molecular strategies to create complex life.
22:15 – Families of Genes, Proteins & Molecular Efficiency
How biological systems adapt and customize molecular functions.
26:00 – Life as an Information System
Stan explains DNA, RNA, proteins, and cells through the lens of information theory.
29:00 – Final Thoughts: Humanity Wins Through Science
Why scientific perseverance ultimately benefits patients and society.
34 min
May 06Realizing Hope for Layken
A nano rare diagnosis reshapes an entire family.
In Realizing Hope for Layken, Stan Crooke speaks with Callan Pleasant about her daughter Layken and their journey with HNRNPH2.
Callan shares the early signs, the long road to diagnosis, and what it takes to navigate care while holding onto hope. Through n-Lorem, Layken’s story is moving forward with new possibility.
Listen to the full conversation with Callan Pleasant.
Show Notes:
1:20 – Introduction of special guest Callan Pleasant and her family, namely her daughter Layken
3:50– Parenthood and speed bumps
7:30 – First medical consultation regarding Layken
9:30 – No such thing as a lazy baby. A second look at Layken
10:40 – Finding a diagnosis: HNRNPH2
13:50 – Feeling alone after realizing Layken has a nano-rare disease
16:30 – Managing frustrations and blaming themselves
20:30 – Managing expectations
23:00 – Challenging Layken to communicate and move
26:30 – Finding solidarity with other families
29:30 – London, Layken's sister
38:40 – An explanation of HNRNPH2 along with signs and symptoms
47:30 – Considering possible treatments and risks
49:30 – Taking a leap of faith and submitting for ASO treatment
54:00 – n-Lorem providing hope through science
56:00 – Layken's first treatment
57:30 – Layken's progress
58:50 – Positive verbal progression
1:01:50 – Callan's advice to families
1 hr 5 min

About Patient Empowerment Program: A Rare Disease Podcast

From the publisher's feed

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.

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