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 Donate to n-Lorem and Make Hope Possible Register to attend the 2026 Nano-rare Patient Colloquium

Meet Grace Hoyt — a bright, witty high schooler with a passion for singing, art, and romantasy audiobooks. Grace also happens to live with a rare disease (FLVCR1) that has left her legally blind, unable to feel pain, and unsteady on her feet. On her 13th birthday, Grace received a first-of-its-kind ASO medicine designed by n-Lorem to preserve her remaining vision. Today, she can still read snippets of her beloved “book children” — the physical versions of her favorite audiobooks — and, importantly, recognize and assess her sometimes life-threatening skin infections, a skill that could save her life.

The ‘Hero of n-Lorem’ Award is a recognition given to an individual volunteer or organization that has made substantial contributions to n-Lorem and our nano-rare patients. This honor recognizes our ‘unsung heroes’, those who have gone the extra mile, taken time away from their schedules and families and leveraged their expertise and contacts to support n-Lorem’s mission to provide hope and potential help to nano-rare patients. On this episode of the Patient Empowerment Program podcast, we welcome three of our five 2025 Heroes for a conversation about their inspiration to take action: - Wendy Erler, Senior Vice President, Patient Affairs, Sarepta Therapeutics - Richard S. Geary, Ph.D., Chief Development Officer, Executive Vice President of Development, Ionis Pharmaceuticals - Scott Henry, Ph.D., DABT, SVP, Nonclinical Development, Ionis Pharmaceuticals Sponsors: ChemGenes Hongene Biotech NRPC25: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Sarah and Ryan Marta, proud parents of three girls from Central Texas, began noticing that their middle daughter, Kinsley, was slow to reach mobility milestones in her early years. During a visit to a friend’s house, concerns about her vision were raised, prompting a check-up. What began as a single hospital visit quickly turned into many. An MRI revealed abnormal levels of white matter in Kinsley’s brain—leading to the devastating and confusing diagnosis of a nano-rare neurodegenerative disease called TUBB4A. Looking high and low for help, they eventually discovered n-Lorem, a non-profit that discovers and develops personalized medicines for extremely rare individuals like Kinsley. Kinsley is lively and cheerful with infectious laughter and a bright smile that lights up every room. She loves singing at the top of her lungs, swinging in the fresh air, and spending endless hours playing with her sisters and cousins. Kinsley uses a mobility walker to get around, but one of her biggest dreams is to run. When asked what she’d do after running, she simply says, “I’d run some more.” On This Episode We Discuss: 2:35 - Early signs of Kinsley’s disease and her TUBB4A diagnosis 4:00 - Fight or flight – Sarah and Ryan did all they could to seek help 7:30 - Defining TUBB4A 9:40 - Kinsley's challenges today 11:00 - The impact rare diseases have on families 14:40 – Kinsley wants to do more, and an n-Lorem medicine provides optimism Links: 2025 Nano-rare Patient Colloquium Agenda and Registration - https://www.nlorem.org/nano-rare-patient-colloquium-2025/ Donate to n-Lorem - https://www.nlorem.org/donate/ Hongene Biotech - https://hongene.com/

At n-Lorem, every investment decision carries real weight by directly affecting the nano-rare patients we serve. We think very deeply about each decision of how to invest the limited and precious dollars that we have. But what about investing in basic research to advance antisense oligonucleotide (ASO) technology for the future? Certainly, most of the money should and is being put towards creating ASOs to help patients in need today. Meanwhile, it is also our belief that we must invest to continue innovating and, in this episode, we explore the research occurring at n-Lorem today that will lead to better treatments for more nano-rare patients tomorrow. On this episode we discuss: - ASO technology is still evolving unlike other validated drug discovery technologies - Nano-rare patients need more from ASO technology - Reasons n-Lorem are unable to help more patients Loss of function mutations Mutations that cause dysfunction of an organ to which ASOs distribute at only high doses Innate immune activation Challenges in creating allele-selective ASOs - Solutions to these challenges are possible and we know how to do it Advances in loss of function mutations Targeted delivery to muscle, the immune system, the gut and heart Controlling innate immune activation Enhanced allele-selectivity Links: Colloquium - https://www.nlorem.org/nano-rare-patient-colloquium-2025/ Donate - https://www.nlorem.org/donate/

Connor Gooley is the first patient ever treated with an ASO for TUBB4A-Related Leukodystrophy, a condition that severely disrupts his nervous system, slows nerve impulses, and impairs his fine motor skills. As a result, Connor cannot speak, walk, sit up on his own, or chew well. Still, he manages to army crawl, propel himself in his wheelchair, and use a gait trainer. He’s also remarkably resilient—rarely crying or complaining despite the daily challenges he faces. In this episode of the Patient Empowerment Program, Connor’s parents, Diana and Mike, share their family’s journey from diagnosis to treatment and reflect on their observations of Connor after more than six months on an n-Lorem discovered and developed treatment. On This Episode We Discuss: 1:33 Shaking eyes were the first sign of Connor’s rare disease 4:10 An MRI revealed little to no myelin, leading to whole genome sequencing and an eventual TUBB4A genetic mutation diagnosis 7:10 Connecting with another family with the same mutation 10:00 Finding n-Lorem through a ‘seeking patient candidates’ advertisement in a Global Genes annual report 12:26 Contextualizing Connor’s TUBB4A mutation in simple terms 21:19 How rare diseases affect families and creating a new normal 27:41 Receiving treatment in Boston and contemplating the decision to agree to an experimental treatment for their son 32:00 Observations after 6 months on treatment 35:45 n-Lorem has given the Gooley family hope for a better future for Connor Links: Hongene Biotech: https://www.hongene.com/ Donate to n-Lorem / Support nano-rare: https://www.nlorem.org/donate/ n-Lorem 2025 NRPC: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

What Are Chemicals? | How Drugs Work in the Body | Understanding Homeostasis We’re all made of chemicals—but what exactly is a chemical? In this video, we break down the basics: chemicals are forms of matter that exist as solids, liquids, or gases. Inside living organisms, these chemicals create complex networks that keep us alive and balanced—a process known as homeostasis. Drugs are chemicals too! They work by interacting with these biological networks to help restore or adjust how the body functions. Whether you’re a curious learner, a patient, or a future scientist, understanding these fundamentals can empower better decisions about your health and treatment. 🔬 Learn more about biology, medicine, and how science impacts your daily life. 💊 Subscribe for more videos on drug development, health, and patient education. Full Intro to Medical Science Playlist: https://www.youtube.com/playlist?list=PLrDVyc3t26Fy5aQpo3mulackGlUwrIqYL In This Episode, We Explore - What exactly is a chemical—and why it matters - The definition of a drug and how it works in the body - How chemical reactions power life - Biochemicals: the molecules that make living systems tick - Cells: the basic building blocks of life - Types of polymers and their roles in biology - The languages of life: how nucleic acids and proteins communicate - DNA and RNA—what they are and what they do - What happens when genes change: understanding mutations - The difference between helpful and harmful gene mutations