A New Step Forward: What Our EEG Study Is Teaching Us About SLC6A1 — And Where It’s Leading Next By Hamza Dahshi Grab a mug of coffee (or a sippy cup if you’re five) and let’s talk brainwaves, biomarkers, and what they could mean for every family living with SLC6A1-NDD. Read more…
The 2024 SLC6A1 Connect Science Symposium was held on December 5th, 2024, the day before the annual American Epilepsy Society Conference in Los Angeles, California. Both SLC6A1 researchers and several SLC6A1 families attended the symposium. SLC6A1 Connect is pleased to release 23 videos of presentations from the symposium. These videos contain parent Read more…
As we continue our series on SLC6A1 gene disorders, this latest blog entry by Dr. Sam Patel explores how induced pluripotent stem cells (iPSCs) and their differentiated progeny are transforming drug screening platforms, with a focus on antisense oligonucleotides (ASOs) as a therapeutic strategy for genetic conditions like SLC6A1-related disorders Read more…
As we continue our series on SLC6A1 gene disorders, Dr. Sam Patel delves into the function and cellular localization of the SLC6A1 gene in this second blog post. SLC6A1-related disorders are rare genetic conditions affecting young children, leading to seizures, developmental delays, and other neurological challenges. These disorders stem from Read more…
We hope you will join us for SLC6A1 Connect’s 2024 International Scientific Symposium and Family Conference to be held on December 5-6, 2024 at the Omni Hotel in Los Angeles, CA, prior to the American Epilepsy Society Annual Meeting. Our International Scientific Symposium will be a full day of clinical Read more…
Please join SLC6A1 Connect in welcoming the following blog post from Sam Patel, PhD. Dr. Patel is a seasoned stem cell biologist with expertise in developing novel approaches to discover therapeutics for rare conditions, like SLC6A1 gene disorder. We are hopeful that reprogramming adult cells into Induced Pluripotent Stem Cells (IPSCs) Read more…
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 Read more…
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 Read more…
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. Read more…
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 Read more…