Patient Empowerment Program: A Rare Disease Podcast

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

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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.

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.

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