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.

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.

- Nano-rare patients need more from ASO technology

- Reasons n-Lorem are unable to help more patients

- Solutions to these challenges are possible and we know how to do it

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:

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.

Support nano-rare with a donation to n-Lorem: https://www.nlorem.org/donate/ 

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

What makes antisense oligonucleotides (ASOs) so special?

- The repurposing of small molecule drugs

- The promise and limitations of gene replacement therapies

- What makes ASO drug development different—and better—for nano-rare diseases

- A brief history of modern drug development

- How regulatory frameworks evolved after medical disasters

- The decentralization of the biotechnology industry

- What challenges still lie ahead in genetic medicine

Intro to Medical Science Series YouTube Playlist: https://www.youtube.com/playlist?list=PLrDVyc3t26Fy5aQpo3mulackGlUwrIqYL 

This episode is brought to you by Hongene Biotech!

On this episode we discuss:

2:45 – What Connor’s life was like from birth

4:20 – Finding a SCN2A diagnosis through genomic sequencing

6:40 – A hallway conversation between Kelley and Stan about Connor sparked the idea of the n-Lorem Foundation

9:20 – Dr. Olivia Kim-McManus on engaging and gaining institutional support to treat n-of-1

11:40 – Connor's program was uniquely challenging

14:18 – Connor unknowingly had coronavirus upon receiving his first ASO dose

18:00 – Symptoms that affect Connor’s life on a daily basis

18:55 – Connor has walked unassisted for the first time in his life

26:10 – Finding the optimal treatment dose and schedule

29:05 – Improvement of painful gastrointestinal (GI) issues

Bios:

Kelley Dalby is the Director of Natural History and Diagnostics in Epilepsy at Praxis Precision Medicines, where she has worked for four years. Kelley worked as a high school English teacher in San Diego until her son Connor was born with a severe form of epilepsy caused by a mutation in the SCN2A gene. When he was diagnosed, she co-founded a biotechnology company, RogCon, focused on discovering therapies for SCN2A mutations. Kelley served as Vice President and contributed to the companies’ success, including licensing the primary program to Praxis Precision Medicines.

Dr. Olivia Kim-McManus is an Associate Clinical Professor, UC San Diego School of Medicine Dept of Neurosciences, Pediatric Neurologist and Epileptologist, Rady Children’s Hospital Precision Therapeutics Neuro-Interventional Program Director. She received her undergraduate degree in Neurosciences at Columbia University in New York City and medical degree at George Washington University Children’s National Medical Center. She specializes in treating children with medically intractable epilepsy due to rare genetic etiologies requiring targeted genetic therapies or epilepsy surgery. She is the Director of the Batten’s Disease Neuro-infusion Program at Rady Children’s Hospital where she delivers intraventricular cerliponase-alfa enzyme replacement therapy via Ommaya reservoir targeted for disease modifying therapy for rare pediatric genetic disease. Dr. Kim-McManus is Neurology Section Vice Chief of Medical Staff Executive Committee at Rady Children’s Hospital, ACGME Epilepsy Fellowship Associate Program Director at UCSD, Epilepsy Foundation San Diego Professional Advisory Board member, Rady Children’s Insitute for Genomic Medicine clinical investigator, and UCSD Altman Clinical and Translational Research Institute Scientific Review Board member.

Links: n-Lorem Candle and Card Fundraiser - https://www.nlorem.org/mothers-day-candle-2025/ 

Hongene - https://www.hongene.com/ 

For n-Lorem's Chief Operating Officer, Sarah Glass, the mission of n-Lorem is deeply personal. Her son Ethan was diagnosed with a nano-rare mutation, a journey that has shaped her commitment to the cause. A geneticist by training, Sarah joined n-Lorem to help lead and guide the organization in its efforts to offer hope and potential help through treatment opportunities to nano-rare patients and their families. This is more than just a job for her—she is driven by her love for her son and a passion to serve the entire nano-rare community. This episode is proudly sponsored by Hongene Biotech.

“We are changing the landscape of rare disease drug discovery and development – starting with the most rare.” – Sarah Glass, Ph.D.

On This Episode We Discuss:

✔️ Sarah’s background in science and her early interests

✔️ How working at a Contract Research Organization (CRO) shaped her understanding of the patient experience

✔️ The challenges of rare disease clinical trials and why they are still relatively new

✔️ Sarah’s son, Ethan, and his journey as a nano-rare patient

✔️ How long it took for Ethan to receive a diagnosis and the symptoms he faces

✔️ How Sarah discovered n-Lorem, a nonprofit providing free, lifetime treatment for nano-rare patients

✔️ The emotional journey of caring for a nano-rare child—how parents navigate hope and uncertainty

✔️ What Sarah has learned while working at n-Lorem

✔️ The biggest surprises in her journey as both a mother and a scientist

If you’re passionate about rare diseases, personalized medicine, and patient advocacy, this episode is a must-watch! 💙

🔔 Subscribe for more stories from the rare disease community! #RareDisease #NanoRare #nLorem #PatientAdvocacy #geneticdisorders

Donate to n-Lorem: www.nlorem.org/donate 

More about Hongene: www.hongene.com 

Our bodies are like bustling cities of cells, always chatting and working together. They don’t just send long-distance messages to organs—they also gossip locally, getting nearby cells to spring into action. Juxtacrine communication is like a handshake between cells—they have to be up close and personal to pass the message along! Unlike long-distance cellular calls, juxtacrine signaling requires direct contact, where one cell’s surface proteins interact with another’s, triggering a response.

This episode is brought to you by Hongene Biotech who is continuously innovating to make RNA medicines accessible and affordable to patients worldwide. Visit www.hongene.com

On this episode we discuss: