Show notes
We are delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are joined by Dr. Kari Mattison, Dr. Luis Miguel Oliveira, and Ana Rita.
Kari Mattison, PhD is a research scientist at the University of Minnesota - Twin Cities. She earned her PhD in Genetics and Molecular Biology from Emory University where her dissertation work was on functional evaluation of novel variants identified in early-onset epilepsy. Kari enjoys science communication having earned an ARCS scholar award while in grad school and working as Editor-in-Chief for the Journal of Emerging Investigators, a journal aimed at helping middle and high-school aged students learn the ins and outs of scientific publishing.
Luis Miguel Oliveira, PhD, is Founder and Executive Director of the v-ATPase Alliance, a non-profit dedicated to finding a cure for rare disorders caused by v-ATPase genetic mutations. He is also a Senior Associate Director of Research Programs at The Michael J. Fox Foundation, leading several research initiatives in translational research and biomarker development for Parkinson's disease.
Ana Rita faced the challenge of her firstborn being diagnosed with this ultra-rare genetic disease in the ATP6V0c gene, prompting her to utilize her expertise in economics, branding, communication and her entrepreneur spirit to make a difference. Despite being told there was no answer or treatment for her son, she began a mission to bring affected families together, learn from them, also questioning experts, doctors and researchers and surrounding herself with a team eager for change, committed to push boundaries and reshaping the future of all v-ATPase affected children and families. She is now a fierce Rare Disease Advocate utilizing mainly social media @anaritararemom.
Episode Topics:
Overview of Dr. Mattison’s research on ATP6V0C and its connection to epilepsy.
Dr. Mattison’s journey to studying the V-ATPase complex and its role in neurological disorders.
Initial findings linking ATP6V0C to epilepsy.
The impact of ATP6V0C variants on the function of the V-ATPase and genotype-phenotype correlations.
How Dr. Oliveira discovered Dr. Mattison’s paper and their subsequent collaboration.
Daniel’s symptoms and the diagnostic odyssey leading to the identification of the pathogenic variant in ATP6V0C.
The inception of the v-ATPase Alliance, its mission, and goals.
Resources and support offered by the v-ATPase Alliance to patients and their families.
The importance of a patient-centric research agenda in the v-ATPase Alliance.
Contributions of patients and families to research efforts, particularly through the Data Collection Program.
Collaboration between researchers and patient advocacy groups like the v-ATPase Alliance.
Future goals and initiatives planned for the v-ATPase Alliance.
The evolution of the field of genetics, especially concerning neurological disorders.
Advice for new patient advocates in the rare disease community.
You can read Dr. Mattison’s paper that we refer to throughout the interview here. Be sure to check out the v-ATPase Alliance including on Facebook, Instagram, LinkedIn, and X. If you are a scientist working on v-ATPases please reach out!
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