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

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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.