Episode 5: A Deep Dive into Rare Disease Research: Part 2

🎙️ Hosts: Erin Hubbard, Laurel Gregier

🎤 Guest: Dr. Martin

📅 Release Date: 4/21/2025

🔬 Topic: Advancing Research for Beta-Mannosidosis

Episode Overview

In Part 2 of our conversation with Dr. Angela Martin, we are continuing our conversation on rare disease research. Building on our earlier discussion of enzyme replacement therapy and the challenges of treating beta-mannosidosis, this episode explores how awareness, advocacy, and day-to-day lab work come together to drive progress.

Dr. Martin shares her passion for science, the emotional impact of working closely with families, and how conferences like WORLD play a pivotal role in forging critical partnerships. We also talk about the real-life stories and responsibilities behind the science, and what keeps researchers like Dr. Martin going in the face of uncertainty.

Key Takeaways

✔️ The importance of awareness and early diagnosis in rare disease treatment

✔️ How parent-led advocacy accelerates scientific progress

✔️ The daily grind—and joy—of conducting rare disease research

✔️ The pivotal role of conferences like WORLD in connecting research teams with potential biotech partners

✔️ How families and supporters can meaningfully contribute to ongoing research

Resources & Links

🌐 Learn more: thelostenzymeproject.org

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https://www.facebook.com/people/The-Lost-Enzyme-Project/61551541563692/

📩 Contact us:

Email us at admin@thelostenzymeproject.org

Producer: alex@thelostenzymeproject.org

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