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:

• Paracrine communication
• Recently found exosomes
• Cell to cell contact-dependent communication (Juxtacrine signaling)
• Tunneling microtubes
• Cell communication conclusions