2023 SLC6A1 Connect Symposium Science Track Videos Are Now Available
The 2023 SLC6A1 Connect Symposium was held on November 30th, 2023, the day before the annual American Epilepsy Society Conference.?The events were held in Orlando, Florida.?Both SLC6A1 researchers and several SLC6A1 families attended the symposium.SLC6A1 Connect is pleased to release 24 videos of presentations from the science track of the symposium.? These videos contain parent…
SLC6A1 Advocacy at REPO4EU in Stockholm
Author: Lindsay Randall of Arthur’s Quest, United Kingdom I was very excited to receive a link from our wonderful Portuguese mother Julia Ferrer, for an Orphan Drug Conference called REPO4EU. I had never heard of it before, but thought this title sounds like exactly what we are trying to do as a European network, and…
SLC6A1 Connect Proposes Public EEG Dataset For Diagnostic Research
Increasing diagnoses will help us cure SLC6A1 SLC6A1 and other genetic brain disorders are underdiagnosed due to barriers to genetic testing. Conditions that are considered ‘rare’ struggle to attract medical research. A great deal of medical research is funded by drug manufacturers seeking a market for their treatment products. Larger market opportunities attract more funding…
Simons Searchlight Quarterly Report – October 2023
Our friends at @SimonsSearchlight created a new quarterly report with updated information shared by our families and a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL). The CBCL includes questions about anxiety, sadness, somatic and emotional concerns, attention, social difficulties, and more. Simons Searchlight assigns the CBCL…
SLC6A1 featured at the Orphan Drugs and Rare Diseases Conference in London
We are excited to share the following blog post from Lindsay Randall. Lindsay is the founder of Arthur’s Quest, our partner SLC6A1 community in the United Kingdom.  On October 10th, my daughter’s 4th Birthday, I attended the 4th Annual MarketsandMarkets Orphan Drugs and Rare Diseases Conference in London, as a speaker. My Husband Daniel, and…
SLC6A1 Advocacy at ILAE 2023
by Lindsay Dilley, founder of Arthur’s Quest and SLC6A1 Connect UK After a disappointing rejection of our submission to the International League Against Epilepsy (ILAE) for a special interest session on SLC6A1, I was delighted to hear that the advocates were going to attend anyway, and that Amber was pushing to be included somehow. As…
Simons Searchlight Quarterly Report – August 2023
Our friends at @SimonsSearchlight created a new quarterly report with updated information shared by our families and feature a special spotlight on developmental growth charts, using insights based on the Vineland Adaptive Behavior Scales (Vineland-3) data, which show skills at different ages. Caregivers share how their loved ones with the genetic condition progress in communication, self-care,…
We Are Rare But We Are There!
Last July Amber asked me to help launch the Ciitizen partnership with SLC6A1 to create a new digital Natural History Study. Ciitizen was founded with a mission to let patients control their own health records to aid in their own healthcare and to advance research. They developed the Rare Patient Network, which is a collaboration…
#ShineYourSearchlight Step 6 – Update Simons Searchlight Yearly
#ShineYourSearchlight ? Continue your @SimonsSearchlight journey and help our community grow! Your involvement can lead to important insights so current and future families can find hope for their family. The more data we collect over time, the better picture we will have of what it means to have SLC6A1. Go to your dashboard to finish…