Advertise on podcast: Patient Empowerment Program: A Rare Disease Podcast

Today, we’re launching a NEW 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: Genomics. Coming next: iPSCs, the RNA World, and Antisense Technology. The breakthroughs that pushed possibility even further. ------ The Patient Empowerment Program podcast is hosted by n-Lorem Founder and CEO, Stan Crooke. Dr. Crooke recently joined the advisory board of the 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. You can join the CNBC Cures Newsletter here: https://www.cnbc.com/cnbc-cures-newsletter/ Today's sponsor is ChemGenes: https://www.chemgenes.com/ 

Your questions, answered. n-Lorem CEO, Stan Crooke, answers questions directly from the nano-rare community in this special Q&A episode. How often is Drug safety monitored? When is an existing ASO made available to others? Not capping accepted applications and more. Do you have additional questions? Email [email protected].   On This Episode We Discuss: 5:40 - What is the frequency range of intrathecal and/or LP administrations? Do the treatments not typically cross the blood brain barrier? 7:06 - How do you administer the ASO to animals - is it according to how you plan to administer to the patient? 7:36 - How do you evaluate the potential on-target toxicity if the nonclinical species does not contain the targeted sequence? 9:35 - How often is safety monitored? Is it only monitored quarterly at the Data/Drug Safety Monitoring Board (DSMB) meetings? 11:03 - How long after an ASO is developed for one child, is it offered to other children? Of course, we know that they will have to submit an application. Does the ASO become potentially available for other children after the first child's 2-year trial is over? Or is it potentially available after just a few doses to confirm safety and efficacy? 14:18 - Are there plans to commercialize drugs for the nano-rare? 16:27 - What proportion of institutions elect to use external / centralized institutional review boards (IRBs)? 18:21 - Will there be a cap of accepted applicants from n-Lorem? The demand will only grow and there’s a fear for some families that there’s a chance of n-Lorem capping the number? 19:44 – Once we have our neurologist team working on getting our child accepted, what else do we need to do? What I guess is our next step? Is there anything we should do in the meantime? 20:31 – What should a parent expect once their application has been accepted to n-Lorem? 21:19 – There are widely varying timelines regarding this process. What as a parent should I expect regarding timing? 22:30 – There are companies and academic scientists that claim to provide ASOs for a fee. What do you think about these providers? 23:40 – Insights: What is n-Lorem learning that will be broadly applicable to the scientific community; Dreaming bigger and hoping for more

In this special Best Of episode, we revisit some of the powerful moments from the 2025 Nano-Rare Patient Colloquium—an extraordinary gathering that brought together more than 875 patients, family members, scientists, physicians, advocates, and industry leaders from around the world, both in person and virtually.  This episode highlights moving patient stories, thought-provoking scientific conversations, and community-led discussions that reflect the momentum building across the nano-rare space. Together, these voices showcase the growing impact of personalized experimental medicines and the shared determination to turn possibility into progress.  From inspiration to action, this Best Of captures the heart of the Colloquium—and the collective commitment to creating a brighter future for individuals and families living with nano-rare diseases.    Recap page:  https://www.nlorem.org/nano-rare-patient-colloquium-2025/    Colloquium YouTube Playlist (alternative to recap page):  https://youtube.com/playlist?list=PLrDVyc3t26FxvnqoiApY_Qw1_weTAQ4MS&si=EWBvQ0ZdDH-Rq1mJ 

A conversation with Natacha Gassenbach, 2025 Hero of n-Lorem and Biogen leader. She shares Biogen’s decision to become a founding donor of n-Lorem, the impact of the Nano-Rare Patient Colloquium. Natacha also explores “the movement for nano-rare” and a shared vision of tackling difficult challenges to drive meaningful change.   Holiday Ornament: https://www.nlorem.org/holiday-ornament-fundraiser/   On this episode: 1:18 – Natacha introduction 3:00 – Biogen’s path to becoming a founding donor of n-Lorem and giving back to the community 4:57 – Why Natacha and Biogen invested in n-Lorem and convincing new individuals to buy into the mission 7:19 – Biogen has hosted the n-Lorem Nano-rare Patient Colloquium since 2023 9:40 – Biogen and n-Lorem share the connection of tackling difficult tasks to make a difference in the world 15:05 – A movement for nano-rare the possibilities it may bring 17:45 – Taking advantage of nano-rare learnings and implementing them into drug discovery for larger patient populations

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.

As the 2025 Nano-rare Patient Colloquium approaches, we welcome back Transmitter Features Editor Brady Huggett to guest-host this episode of the Patient Empowerment Program podcast. Brady sits down with n-Lorem founder and CEO, Dr. Stan Crooke, to reflect onto reflect on the strides made over the past year—insights that will help shape the discussions at this year’s Colloquium. On This Episode We Discuss: 2:10 How n-Lorem decides to give a medicine specifically designed for one person to another individual 8:10 n-Lorem built systems to be able to treat more than one patient with a single drug 11:08 n-Lorem creates medicines for nano-rare genetically caused forms of ALS 15:14 New suggestions about the plasticity of the central nervous system and the future of medicine 19:40 Why science isn’t in a good place and will experience lasting repercussions 25:00 The Colloquium will focus on what we’ve learned at n-Lorem and what was once thought to be impossible is possible 27:34 An update on the quantity of INDs filed and patients treated with an n-Lorem ASO 28:80 The benefits of implementing whole genome sequencing (WGS) at birth 30:37 What surprises have emerged throughout the organizational journey of n-Lorem   NRPC25 registration: https://www.nlorem.org/nano-rare-patient-colloquium-2025/    Sponsors ChemGenes: https://www.chemgenes.com/  Honegene: https://www.hongene.com/en 

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/   

Rescue 7 is dedicated to serving the most vulnerable patient communities with care, compassion, and critical support. Inspired by the traditions of Fire Departments, Police Departments, and Military service worldwide, their programs go beyond emergency response. From patient transportation to sibling support initiatives, as well as emergency disaster relief efforts — Rescue 7 is there. Always ready and there when you need them. Rescue 7 is founded by n-Lorem families. They will host the Family Club at the 2025 Nano-rare Patient Colloquium. Families are invited to stop by, hang out, or drop off their children for fun, firefighting-themed activities while caregivers attend the event. Get to meet the first responder volunteers, Luke Rosen, and Raena and Frank Vrtochnick in this episode of the Patient Empowerment Program Podcast!

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/ 

Emerging observations from our work at n-Lorem suggest that not all developmental delays are permanent. In the absence of structural damage—such as microcephaly, congenital deformities of the skull or bones, or organ malformations—there appears to be potential for improvement in movement disorders, cognition, autistic features, and more. These insights point to a level of resilience and plasticity in the central nervous system that may be greater than previously believed, and they are beginning to reshape how the scientific community understands the brain. On This Episode We Discuss: 2:12 The idea that a missed or delayed developmental step can lead to permanent deficits might not be true 3:30 Observations that support the conclusions that developmental deficits aren't permanent unless they cause structural damage, like microcephaly, bone or skull deformities, or organ malformation 5:55 ASO treatment can dramatically enhance muscle strength 7:54 Abnormal movements and the inability to control movement 11:30 The damage seizures cause lead to further developmental delays 12:46 We’ve observed improvement in those with ataxia, or dizziness 14:25 Improved cognition observed in patients with various mutations, genes, and forms of intellectual disability 15:00 Recovery of speech and improvements in autistic features, such as intellectual disability, and other associated manifestations 16:10 Severe neuropathic pain makes development difficult, and reduction in pain has been observed 16:40 Ongoing issues with autonomic nervous system control—including blood pressure, heart rate, breathing, light response, and digestive and urinary function—are debilitating and make normal development nearly impossible 18:00 The implications of these observations are transforming the scientific community’s understanding of the brain and central nervous system   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/ 

The Data Safety Monitoring Board (DSMB) is composed of distinguished, independent experts in antisense oligonucleotide (ASO) technology, clinical trial design and evaluation, and drug development. Many are also dedicated clinicians who care for patients with rare diseases. This board provides unbiased safety oversight by reviewing accumulated data from all investigator-initiated studies involving n-Lorem’s ASO medicines. n-Lorem's DSMB is chaired by Dr. Eugene Schneider, Executive Vice President and Chief Clinical Development and Operations Officer at Ionis Pharmaceuticals.   On This Episode We Discuss: 2:20 – What is the Data Safety Monitoring Board at n-Lorem? 6:50 – Monitoring the data from each and every treated n-Lorem patient is essential 9:40 – The DSMB consists of a collection of physicians and other experts 13:20 – As the number of n-Lorem patients grows, the DSMB’s responsibilities have expanded significantly—yet members remain deeply committed to supporting the mission 17:05 – The DSMB’s goal is to avoid any ASO-related serious adverse events (SAEs) and minimize adverse events 19:20 – During his time as Chair of the DSMB, Eugene has learned lessons in patience and humility 21:00 The judgements of monitoring boards can and will affect lives Links: n-Lorem 2025 Nano-rare Patient Colloquium: https://www.nlorem.org/nano-rare-patient-colloquium-2025/  Donate to support n-Lorem programs: https://www.nlorem.org/donate/  Hongene Biotech: https://www.hongene.com/ 

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/ 

Induced pluripotent stem cells (iPSCs) are a groundbreaking, and mind-blowing, scientific advancement—one of many that help make it possible for n-Lorem to do what we do. In short, typical skin cells (such as fibroblasts) are taken from an individual and reprogrammed using specific factors to become iPSCs. These iPSCs are then redifferentiated into any desired cell type in the body, such as muscle or liver cells. You can do that? Yes, and we do! The most common cell type that we use at n-Lorem are neurons (nerve cells). These cells are not easily accessible in living humans without serious surgeries and that is why scientists instead use iPSCs to grow them. On This Episode We Discuss: 1:23 - What are Induced Pluripotent Stem Cells? 5:45 - Chromatin – compressed DNA and proteins 9:13 - Differentiation and de-differentiation 10:26 - Transcription and transcription factors 12:35 - Why are iPSCs important? 15:20 - Making iPSC and re-differentiating them into the cells we study is time consuming and expensive Important Links: n-Lorem 2025 Nano-rare Patient Colloquium - https://www.nlorem.org/nano-rare-patient-colloquium-2025/  Support nano-rare with a donation to n-Lorem: https://www.nlorem.org/donate/  Learn about Hongene Biotech: https://hongene.com/ 

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