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

A lot can happen in a year, and at n-Lorem, this past year has brought important milestones, new developments, and plenty to discuss at the upcoming 2026 Nano-rare Patient Colloquium.  In this special Colloquium preview episode, Brady Huggett, editor-in-chief of Asimov Press and longtime moderator of the Colloquium’s patient experience panel, returns to sit down with n-Lorem CEO Stan Crooke. Together, they reflect on the past year, explore some of the topics likely to take center stage, and preview what attendees can expect at the 2026 Nano-rare Patient Colloquium.  On this episode: 2:28 – What is a day in the life of an n-Lorem research team member?  9:08 – How many ASOs are required to move into tolerability studies and what may cause a program to be terminated  12:05 – Improvements in efficiencies, bringing down costs, and growth have allowed n-Lorem to respond to the extraordinary demand  13:14 – Discussing the creation of individualized ASOs for two boys with SCN2A mutations and their potential to help others with the same mutation and single nucleotide variant  25:00 – Thoughts on the FDA’s Plausible Mechanism Framework  29:00 – Commercial opportunities will not alter the n-Lorem charitable arm but will provide sustainable revenues to charitably treat more patients  36:05 – What are the Limits of Hope and expanding those limits  37:54 – Empathy is an expanded sense of self, and a sphere of oneness is felt at the Colloquium    Links: 2026 Nano-rare Patient Colloquium  Donate to n-Lorem   Episode and NRPC Gold Sponsors: ChemGenes GondolaBio Hongene Biotech

Sally Jackson is a former actress, cookbook co-author, and mother of Susannah. In this Realities of the Nano-rare episode, Sally lets us into her family’s bubble, speaking candidly about the deeply complex and often terrifying realities of navigating KIF1A-associated neurological disorder. From helping Susannah's sibling understand the harsh consequences of her disease to confronting distress, uncertainty, and the profound unfairness of it all, Sally shares the difficult truths her family has faced and continues to carry and fight through. On this episode: 4:00 – Sally and her husband's story first began in a college acting class 9:55 – Forming a career alongside celebrity chef Bobby Flay 13:30 – Family of four including Nat and Susannah 16:55 – Early abnormalities and a diagnosis initially withheld from the family 22:50 – The fight for Susannah and others with KIF1A post-diagnosis 29:24 – Dealing with the seriousness of a degenerative condition while trying to live a normal life 34:00 – Enduring relentless seizures 38:31 – The reality that not even doctors know what's best and often experiment to attempt to relieve rare disease symptoms, and the unfairness of rare disease 45:00 – Informing siblings about the severity and consequences of rare disease 57:00 – Changing the course of their life to advocate to the fullest extent 1:02:25 – After the long fight, there was an ASO 1:07:30 – After years of treatment, Susannah had to stop, a crushing blow that was followed by worsening symptoms before once again resuming treatments Links: Nano-rare Patient Colloquium 2026 Support n-Lorem with a donation Today's Sponsor - Hongene

Silence ALS is an initiative that brings together Columbia University and n-Lorem to support the discovery, development, and treatment of individuals living with nano-rare genetic forms of amyotrophic lateral sclerosis (ALS) through personalized antisense oligonucleotide (ASO) medicines. Learn more about this initiative and one of its co-founders, leading ALS physician-scientist Dr. Neil Shneider in this episode of the Patient Empowerment Program podcast. On this episode we discuss: 4:00 – Developing tools to discuss with patients about the real and scary outcomes of ALS, and changing the course of a neurogenerative and fatal disease 6:52 – Experimental ASO treatments for genetic forms of ALS 9:30 – The creation of Silence ALS to treat extremely rare forms of genetically caused ALS like CHCHD10 and TARDBP and moving the collaboration forward 12:36 – Serving present day and future patient populations with the Silence ALS initiative 17:30 – Learnings gained from treated nano-rare ALS patients may translate to broader ALS groups 22:33 – To ALS patients and families, hope is powerful and makes a difference   Links:  Donate - https://www.nlorem.org/donate/  NRCP26 - https://www.nlorem.org/nano-rare-patient-colloquium-2026/  Hongene - https://www.hongene.com/

The final chapter of our Miracles of Science series has arrived! Today’s miracle is an important one: Antisense Technology, perhaps you've heard of it 😉 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. This series has pulled back the curtain on the scientific and medical breakthroughs that make n-Lorem possible, including Genomic, Stem Cells, the RNA World and Antisense Technology. Their importance is consequential, and without these breakthroughs, n-Lorem would not exist today.   On this episode we discuss: - The Evolution of the Drug Discovery and Development Industry - The Rise of Small-Molecule Drug Discovery - New Platforms That Expanded the Possibilities of Drug Discovery - Why Antisense? - How Ionis Created ASO Technology   Links: Nano-rare Patient Colloquium 2026: https://www.nlorem.org/nano-rare-patient-colloquium-2026/  Support n-Lorem: https://www.nlorem.org/donate/    Episode sponsors: Hongene: https://www.hongene.com/  Chemgenes: https://www.chemgenes.com/

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 ----- Make hope possible with a donation in support of nano-rare patient programs: https://www.nlorem.org/donate/  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 Donate to n-Lorem and Make Hope Possible 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.

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

On This episode We Discuss: 2:30 – Andrew realized that finance plays a very large role in drug development and is an obstacle in for rare disease patients getting the treatments they need 4:30 – The triple whammy of drug development 6:22 – Economic decisions when lives are at stake; Balancing the ethical considerations of medicine and finance 12:17 – Small biotech companies are better for innovation, and a distributed investment process is more productive; Innovation comes from orthogonal thinking 22:40 – Very small prevalence disease drug programs tend to get terminated at commercial organizations; Movement toward finding a way to create a commercial path for extremely rare disease drugs 25:45 – FDA draft guidance for potential commercialization of nano-rare medicines; Where the guidance may lead; Value of a statistical life 30:32 – The cost of a nano-rare patient’s care; Courageous moves of the FDA 35:00 – Regulatory processes merging with the advances of science while still protecting patients   Andrew W. Lo is the Charles E. and Susan T. Harris Professor at the MIT Sloan School of Management, director of MIT’s Laboratory for Financial Engineering, and principal investigator at MIT’s Computer Science and Artificial Intelligence Laboratory. His healthcare-related research interests include: new financial engineering tools and business models for drug and device development and healthcare delivery, especially for rare and ultra-rare diseases; statistical methods for incorporating patient preferences into the drug approval process; predicting clinical trial outcomes via machine learning techniques; and novel reimbursement models for creating a robust gene and cell therapy ecosystem. He is a co-founder of BridgeBio Pharma, QLS Advisors, Quantile Health, and Uncommon Cures; a director of AbCellera, Atomwise, BridgeBio, Uncommon Cures, and Vesalius; and a member of the advisory board to the American Cancer Society’s BrightEdge Impact Fund. Lo received his B.A. in economics from Yale University and his A.M. and Ph.D. in economics from Harvard University.   Patient Empowerment Program host: Stan Crooke, n-Lorem Founder and CEO

In this video message, Chairman Stan Crooke reflects on the close of 2025, six years after founding n-Lorem. He shares his gratitude for the community that made it the organization’s most successful year to date and offers perspective on how progress across every area of the foundation is carrying n-Lorem forward into 2026. Read the 2026 Chairman Letter