E-Newsletter

September 2022

Dear TESS Friends,

We have always believed that being (in-person) where the research is happening is the best way to strengthen and grow our research network. That's why it was such a thrill to be in Austria earlier this month to host our annual SLC13A5 Research Roundtable. After many years of zooming, it was inspiring to be with so many of our Europe-based TESS grantees and families in-person for the first time! For two full days, 50+ attendees shared their research and brainstormed next steps and ways to collaborate. Our conversation was lively throughout, including during lunches and dinners. TESS Superhero families know this disorder better than anyone, and my favorite moments were when the attending scientists asked them questions about their children. We also had an opportunity to see the Neurolentech labs in action! Being in Vienna felt like a vitamin-boost, encouraging us to sprint faster toward better treatments for our families who so truly need them.

But there is no pushing pause on life at home while I am conferencing abroad. Austria is a long way from my home in California. Children with SLC13A5 Epilepsy are dependent on caregivers 24/7. In my case, the kids were in the very capable hands of my husband and our hero, Amyris, who flew in from Texas to help. And yet, I still felt pangs of guilt as I saw texts and emails popping up on my phone about Colton needing to be picked up from school early due to a cold. I could hear the exhaustion in my husband’s voice after what was clearly a hard afternoon with Tessa.

Fighting SLC13A5 Epilepsy at home and professionally is a rewarding juggle. I know firsthand what families go through as we struggle with our children’s seizures and developmental challenges, and the loving burden of caregiving. I have so much gratitude for our doctors and researchers who understand the urgency of our need and who fight alongside us to change the course of this disorder.

My heart is full and my passport has a couple new stamps. Thanks to all of you who are making our progress possible.

Yours always,

Kim Lodato Nye

Founder, TESS Research Foundation

Our first international SLC13A5 Research Roundtable in Vienna, Austria, was a great success! On September 7-8, more than 50 attendees, including basic scientists, clinicians, industry partners, and families, shared new data, learned from one another, and identified ways to collaborate. Thank you to IST Austria for hosting us and to everyone who attended!

TESS Superheroes inspire our entire TESS community with their courage and determination—their hard work and infectious smiles are contagious! Superhero Henri lives in Brazil and loves to read books with his family. He doesn’t yet walk on his own, but is very curious and adventurous and loves motorcycles and jet skis! Learn more about Henri on his permanent page or make a donation in his honor.

Science Summary is a component of our Scientific Literacy* program, written by Stephen Windisch, medical student (and uncle of Superhero Meredith), and TESS’ Scientific Director, Tanya Brown, PhD. Each quarter, Stephen and Tanya simplify a scientific publication and highlight a key term to help build our SLC13A5 knowledge and vocabulary. Learn more about induced Pluripotent Stem Cells, or iPSCs, which are cells taken from one’s skin or blood and have the ability to transform and grow into any type of cell in the laboratory and why they are important for SLC13A5 Epilepsy research.

*Scientific Literacy aims to help our community better understand the complexities of SLC13A5 science and to empower families to seek out information about SLC13A5 Epilepsy and to ask questions related to the care of their loved ones. Want to learn more about a specific topic? Email our Scientific Director, Dr. Tanya Brown.

In August, we shared that TESS research grants were awarded to four early-career investigators and introduced Deepika Dogra, PhD, and Valeria Jaramillo-Martinez.

This month, let’s meet Hércules Freitas, PhD, post-doctoral researcher at the Federal University of Rio de Janeiro, and Kristín Allison, graduate student at the University of Iceland. Dr. Freitas is using SLC13A5 patient-derived iPSCs, as well as rodent cells with chemical inhibitors to study how a loss of SLC13A5 alters mitochondrial function, cell shape, and citrate transport. Ms. Allison is investigating the cells that express SLC13A5 and using SLC13A5 patient-derived iPSCs to understand how a loss of citrate transport affects cell survival, cell shape, and cellular activity.

We are excited to see how these research grantees will deepen our understanding of SLC13A5 and develop open-science tools that can be used by any basic scientist studying SLC13A5 Epilepsy. You can support an early-career scientist with a donation today!

Publications about SLC13A5 Epilepsy are important for public education and provide a reference from which the scientific community can learn about the clinical and research aspects of the disorder. Drs. Kim Goodspeed (UTSW), Judy Liu (Brown), Rachel Bailey (UTSW), Deborah Bilder (University of Utah), Berge Minassian (UTSW), and Kim Nye (TESS Research Foundation) partnered with Taysha Gene Therapies’ Suyash Prasad, Chanchal Sadhu, and Fatemeh Tavakkoli on a review published in the September issue of Genes. The article discusses SLC13A5 genetics, natural history, available treatments, potential outcomes and assessments, and considerations for translational medical research and gene therapy. You can read it here.

We are deeply saddened by the passing of Nan Jiang, PhD, from Brown University. Nan was part of the team that created mouse and fly models of SLC13A5. He presented his studies on the affected physiological pathway from SLC13A5 mutations at TESS’ 2018 Research Roundtable. We will miss him and are grateful for all he did to further our understanding of SLC13A5 Epilepsy.

TESS actively collaborates with partners to support basic science research. Early-career investigators are currently invited to apply for funding through the American Epilepsy Society. AES supports the full spectrum of epilepsy research, from basic science through translational and clinical research for SLC13A5 Epilepsy and other epilepsies, seizures, and related conditions.

Watch Dr. Kim Goodspeed's talk as part of the free Lunch & Learn series hosted by the American Society of Gene & Cell Therapy. Dr. Goodspeed shared the most common routes of gene therapy drug delivery and how these routes are currently used in certain approved therapies or clinical trials. Learn more, register for upcoming sessions, and watch previous talks on demand here.

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