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.

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

A nano-rare diagnosis changes more than one life—it transforms an entire family.

In this episode of Realities of the Nano-rare, n-Lorem CEO Stan Crooke sits down with Oliver Glass, Ph.D., MHSc, for an honest and heartfelt conversation about raising a child with DYRK1A syndrome. Together, they discuss the early signs something was wrong, the long search for answers, the realities of daily life, and how their family has adapted to build a new normal.

From daily challenges to unexpected lessons in resilience, love, and perspective, this episode offers a powerful look inside one family’s journey with rare disease.

🎧 Listen now and subscribe for more conversations from the nano-rare community.

Learn more about n-Lorem: https://www.nlorem.org

Episode Chapters

0:00 Intro

1:30 Stan introduces Oliver Glass and his family’s story

7:30 Early signs and symptoms

14:20 Running tests and searching for answers

16:25 The diagnosis journey

23:00 What is DYRK1A?

27:45 Life with Ethan today

32:40 How life looks different as a family

34:00 When the Glass family first heard about n-Lorem

36:20 Biggest worries for the future

38:45 Supporting siblings and balancing attention

43:00 Advice, reflection, and hindsight

#RareDisease #DYRK1A #GeneticDisorders #PatientStory #Podcast #nLorem #CaregiverJourney #FamilyStory

A nano rare diagnosis does not just affect one person. It reshapes an entire family.

Realities of the Nano-rare takes you inside that experience. Hear directly from n-Lorem COO and nano rare mom Sarah Glass as she joins host Stan Crooke to share the day-to-day realities of raising her son Ethan and the ripple effects on their whole family, including his older sister.

Discover how they have adapted, what they have learned, and how they have built a new normal.

Tune in to this powerful two-part series featuring both Sarah and Oliver Glass.

On This Episode We Discuss:

5:08 – Introduction to Sarah Glass and her family's Nano-rare experience

9:00 – Initial challenges of accurately identifying Sarah's son Ethan had a Nano-rare disease

11:30 – Symptoms and telltale signs that there was something else going on with Ethan

14:45 – Identifying that Ethan has DYRK1A

17:20 – Challenges of finding solutions post-diagnosis

20:20 – Navigating Sarah's son's DYRK1A with her unaffected daughter

23: 04 – What's a good day with DYRK1A?

27:01 – What's a bad day with DYRK1A?

34:30 – Managing frustrations of taking care of someone with a Nano-rare disease

37:05 – Compromises in professional life

41:00 – Planning for contingencies

43:10 – Unexpected tender moments of raising someone with DYRK1A

47:30 – Advice for managing expectations, future plans, and working with others

Make sure to check out our sponsor Chemgenes!

Welcome to part two of our series that pulls back the curtain on the scientific and medical breakthroughs that make n-Lorem possible. We call them miracles and without them, n-Lorem would not exist today.

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.

Today’s miracle: Induced Pluripotent Stem Cells or iPSCs

iPSCs are a truly transformative scientific breakthrough that are changing what’s possible for nano-rare patients! They allow us to study, test, and personalize treatments in ways that were unimaginable not long ago. For example, they enable n-Lorem to take easily obtained cells, such as skin cells, grow them and then reprogram them into entirely different cell types of interest, like neurons, cells that exist within the brain and would otherwise be inaccessible without invasive procedures. Incredible!

On This Episode We Discuss:

0:53 – What are induced pluripotent stem cells (iPSCs) why they are essential to n-Lorem and personalized medicine

4:25 – The origins of iPSCs began with curiosity and the discovery and study of cells

10:19 – Cell differentiation: How a single cell (fertilized egg) can create such a diverse universe of other types of cells

18:45 – Terminal differentiation: The final stage of a cell's development reaching its final form

21:45 – The iPSC breakthrough and the doors they’ve opened for treatments