Patient Empowerment Program: A Rare Disease Podcast

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/

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

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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/

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

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.

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.