Update from Dr. Brenda Porter, Scientific Advisory Board Member

Update from Dr. Brenda Porter, Scientific Advisory Board Member

I wanted to take a moment to update everyone on the TESS Research Foundation’s accomplishments!  Sometimes in this very fast-paced world we do not take the time to reflect on where we have been and where we are going.

Scientific Advisory Board

The Scientific Advisory Board of TESS Research Foundation is a small group of dedicated researchers that strive to guide the TESS Research Foundation towards a cure for SLC13A5 Deficiency. We do not receive a salary from the foundation, so every dollar that you donate goes directly toward the scientific research that will lead to a cure.

What have we managed to do with your contributions?

Reviewed Grants and Project Proposals

We’ve reviewed grants and project proposals to ensure that they have the best chance of leading to an eventual cure for SLC13A5 and meet the industry’s rigorous scientific standards. You can read more about the proposals we were able to fund here. Sadly, we were not able to fund as many proposals as we would have liked, so we ask that you please continue to donate to TESS Research Foundation so that you can help fund future research proposals!

Applied for Grants to Fund Projects

With our assistance, researchers were able to apply for grants from large funding organizations, like the National Institute of Health (NIH). The researchers were then able to use that funding in their SLC13A5 studies. Providing the funds to support the development of preliminary data means that the preliminary data from TESS funded research can go much further. Does this work? YES!

Wrote Letters Explaining the Importance of Studying the Transporter

These letters build more support for research projects and have recently helped Dr. Da-Neng Wang at NYU obtain his NIH grant. The grant is now funding his project, which is titled, “Molecular mechanisms of citrate transporter NACT and its mutations that cause pediatric epilepsies.”

What are we working on now?

We’re working to enable collaborations among researchers around the world.  There are ongoing efforts towards:

A few other items that require your attention:

Bio-bank

TESS Research Foundation is trying to create a Bio-bank so that any researcher with an interest in studying SLC13A5 Deficiency can quickly and easily obtain patient samples. If you want to participate and can provide samples, please email science@tessfoundation.org. If you want to help but can’t provide any samples, then please donate to help fund the Bio-bank.

Quantifying Symptoms to Facilitate a Clinical Trial

We’re currently running a project to measure and quantify the neurological symptoms in patients. This is so that when a therapy becomes available, the clinical trial will have a ready-to-go outcome measure. So, when you get an email from us in your inbox, please give some of your valuable time to answer our questions about your family member’s symptoms and capabilities.

Congratulations!

Congratulations to Drs. Anne Murphy and Ana Pajor, our research grant recipients from 2017. They were able to obtain NIH funding for their project, “Metabolic role of the neuronal Na+ dependent citrate transporter implicated in epilepsy.” You can read more about their project on our website’s research section.

Thank you!

There is a whole lot more to learn and many other things in the pipeline, but please know that we keep moving forward towards a cure with YOUR help.