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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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

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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.