Updated: Jul 30, 2018
We are the Williams family. We have two syngap daughters; Jaeli 8 and Dali 6 who received their syngap diagnosis in February 2016. Since then.... - Two factors have contributed to us connecting to the epilepsy community here in Australia. Our first diagnosis was epilepsy and also we are fortunate to have one of the best paediatric epileptologists in the world as our neurologist, Professor Ingrid Scheffer. - We have partnered with the Epilepsy Foundation and they provide fiscal support by managing our syngap research fundraising page, collecting the funds and ring fencing our donations. We have raised $29,144 with an aim to direct these funds to the syngap research effort in Australia - We lobbied the Australian government for funds to research genetic epilepsy and on world epilepsy day this year (Feb 26), the newly created Epilepsy Foundation Research Fund was awarded $2m for genetic epilepsy research. The first $500k was awarded for a specific purpose- to study Syngap. Syngap researchers can also apply for the remainder of the $2m - $500k will be provided to the Florey Institute in the next few weeks to kickstart the Syngap research project we helped to co-ordinate. A dedicated researcher will be recruited to work in the two year project of research using antisense oligonucleotides (ASOs) via RNA, in an effort to repair the syngap mutation - In May, together with a few other genetic epilepsy families, we held our second Genetic Epilepsy Team Australia (GETA) conference. For the first time, there was a strong Syngap contingent, amazing presentations from global syngap researchers. It was a great opportunity to connect local and global interested syngap parties. 3 Professors described their progress in finding a cure for our kids. One is close to a clinical trial, one is currently performing a small trial and the other is about to commence our Australian project using the latest Precision Medicine techniques. It was exciting to hear that recent lab trials have been successful in reversing the effects of Syngap. - Professor Scheffer is on the Syngap medical advisory board and played a crucial role in the conference. - If you want to see the presentations, Professor Poduri, Professor Rumbaugh, Professor Scheffer and Professor Petrou all talk about syngap. Catch the footage here: https://www.youtube.com/channel/UCSUFtTaJQjoEoBEchtMzm8w - The conference also provided a great opportunity to connect with 7 of our known 11 Australian syngap families and Monica Weldon from Bridge the Gap made the journey to attend.
- The next GETA conference is scheduled for May 4, 2019 in Melbourne Australia. - Our goal is to have at least one Australian researcher focused on Syngap research as a constant, until we find a viable treatment. - In the next 6 months, we’re looking most forward to finding, connecting and re-connecting with our syngap family.
We truly believe amazing things can happen through collaboration.