Meet Brenda Porter, MD, PhD, TESS Scientific Advisory Board Member

Q: What is your role at TESS Research Foundation?

I work with the Scientific Advisory Board (scientists, clinicians and biotechnology entrepreneurs who work to advance research on SLC13A5 Epilepsy). We do this by helping TESS identify researchers who are trying to understand SLC13A5 Epilepsy and we figure out which projects TESS should support, ensuring that all funds raised go toward exemplary research.

Q: How does the work you are doing have the potential to help those with SLC13A5 Epilepsy?

Right now, my work is primarily centered on developing biomarkers. A biomarker can be used to measure how well a treatment works. This process involves finding a method to quantify and further understand the SLC13A5 movement problems, measuring levels of citrate and other related molecules in the blood, and quantifying seizures and sharps in EEGs.

Q: What inspires you to contribute your time and skills to TESS?

Two things inspire me, and the first is the Nye family. They are so focused on helping Tessa and Colton become the best versions of themselves that they can be. They inspire me and everyone they meet to work towards a cure.
The second thing is that it’s fascinating to research. Solving this mystery has ramifications even beyond treating SLC13A5 Epilepsy; it would also inform our understanding of metabolism’s role in epilepsies and in other developmental disorders of the nervous system.

Q: Have you learned anything through your work with TESS Research Foundation that you’d like to share?

Thanks to the participation of the families with children with SLC13A5 Epilepsy, we were able to describe a diverse group and the largest number of SLC13A5 patients to-date. We discovered that they had a consistent onset of seizures in the first few days of life; however, later in life they often had a variety of seizure-types, varied in their frequency and in their response to anti-seizure medications. EEG findings suggested that they had mostly normal EEG backgrounds, with no evidence of epilepsy or encephalopathy.
SLC13A5 paper: https://pubmed.ncbi.nlm.nih.gov/32551328/