Episode 2: A Novel Treatment for Beta-Mannosidosis

🎙️ Hosts: Lorena Lomelin and Phoebe Wang

🎤 Guest: Dr. Virginia Kimonis

📅 Release Date:2/28/2025

🔬 Topic: A deep dive into rare disease research.

Episode Summary:

In this episode of These Kids Can’t Wait, hosts Lorena Lomelin and Phoebe Wang sits down with Dr. Virginia Kimonis, a nationally renowned expert in genetics and clinical biochemical genetics, to discuss her groundbreaking work on Beta-Mannosidosis and the development of a novel treatment. Dr. Kimonis shares her journey into rare disease research, the challenges of treating lysosomal storage disorders, and the innovative science behind The Lost Enzyme Project. We also explore the impact of this research on patients and families, the funding challenges in rare disease research, and the future of treatments for ultra-rare conditions.

Key Takeaways:

✔️ What lysosomal storage disorders are and why they’re challenging to treat

✔️ An overview of Beta-Mannosidosis, its symptoms and the challenges faced

✔️ The process of developing a treatment, from preclinical research to clinical trials

✔️ The future of rare disease research and the potential for gene therapy

Resources & Links

🌐 Learn more: https://thelostenzymeproject.org/ or https://bit.ly/lostenzyme

📢 Follow us on social media: https://www.linkedin.com/feed/

https://www.instagram.com/thelostenzymeproject/

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

📩 Contact us: Email us at [email protected] to get in contact with our producer at [email protected]

Dr. Kimonis’s lab: https://www.mammag.uci.edu/kimonis/index.asp

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