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