From Cancer Biologist to Rare Disease Mom – Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD – Professor of Biomedical Engineering at Tufts
ONCE UPON A GENE – EPISODE 172
From Cancer Biologist to Rare Disease Mom – Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD – Professor of Biomedical Engineering at Tufts
Madeleine Oudin is a scientist and Tiampo Family Assistant Professor at Tufts University. Her daughter Margo has two de novo mutations in the SCN8A gene, which causes epilepsy. She’s navigating life as a rare, working mom and sharing her knowledge in an understandable and accessible way for other rare parents.
EPISODE HIGHLIGHTS
Can you tell us about the epilepsy conference you just attended?
The SCN8 community organizes the conference for clinicians, researchers and families every year at the American Epilepsy Society meeting. There were over 35 families in attendance who have children with SCN8A and it was amazing to meet everyone in real life.
What advice do you have for parents who aren’t sure about attending a conference?
Meeting other people has made a big difference for me and I encourage others to find their people. Going to gatherings can lead to finding resources and there’s value in connecting to others and learning more about a disease. Community is everything.
As a scientist and now a rare parent, how do you look through the microscope differently?
The impact of genetic testing surprised me in how vital it is when it comes to rare genetic diseases. When Margo had her first seizure and had genetic testing, the results helped to connect us to community. Genetic testing is vital for families to connect them to resources.
What work have you done in the SCN8A community to help other families understand the disease and advance the treatment progress?
Science communication is something I’m passionate about. Since becoming a rare mom, I started an Instagram account where I explain the science of the diagnosis and break it down so the information is accessible to everyone. I recently did a webinar breaking down the different treatment strategies for SCN8A.
Can you talk about Margo’s acceptance to n-Lorem?
We applied with our neurologist and were accepted into the foundation to develop custom Antisense oligonucleotide (ASO) treatments. In parallel, we’re doing treatments in my lab on a mouse and mouse cells, testing out different ASOs to see if we can gain any additional insights.
LINKS & RESOURCES MENTIONED
ONCE UPON A GENE – Episode 139 – Remember Who You Are
https://effieparks.com/podcast/139-remember-who-you-are
https://www.instagram.com/margot_thebrave/
https://www.youtube.com/playlist?list=PL-RngxzecxdLsaJFQyerqqfGLarDe9MUt
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