Research on SLC6A1

Research lies at the core of our mission. Knowledge and innovation help us to understand SLC6A1 neurodevelopmental disorder (SLC6A1-NDD) and develop effective therapies that will improve the lives of those affected.

Our researchers are beacons of hope; that is why we dedicate our resources to their work.

OUR ROLE

As a patient advocacy organization, one of our tasks is to work closely with researchers interested in SLC6A1. We help guide studies towards the priorities and most urgent needs of our community. We give patients a voice in the scientific community by providing researchers with the information they need to conduct research that is most useful for those affected. To do this, we collect data through questionnaires and surveys.

We also foster collaboration among scientists working on SLC6A1, creating opportunities to share knowledge and coordinate efforts. We attend their meetings, presentations, and seminars—both in person and online—and visit their laboratories in order to better understand their work.

We share key research developments with families and healthcare professionals, providing clear and up-to-date information about ongoing studies, scientific results, new treatments, and ways to participate in clinical trials.

We organize symposiums that bring together families, physicians, researchers, and the pharmaceutical industry. These important events promote dialogue and the exchange of information.

Each year, we take part in either the European or the International Epilepsy Congress, where we host our SLC6A1 EUROPE information booth.

There are foundations, public institutions or associations that organize calls for proposals to support research. We are involved in the preparation of these calls: we help to identify the real needs of patients and to define the criteria so that the selected projects truly meet the needs of the community.

Fundraising is one of the central aspects of our commitment to supporting research. We organise various events and activities to fund studies on SLC6A1. These initiatives include online donation campaigns, charity markets, fundraising information evenings, solidarity dinners, and partnership with local companies and associations. Each initiative is also an opportunity to raise awareness of the disease, involve new people and strengthen the support network around families.

The funds raised are allocated to selected research projects carried out by researchers working on SLC6A1 in Switzerland and abroad.

We meet the researchers in person: in this specific case, we visited the Laboratory of Cellular and Molecular Physiology at the University of Insubria, Varese, Italy, directed by Elena Bossi.

We attend online scientific seminars and presentations on SLC6A1.

We involve patients in clinical or observational studies — in this case at the Gaslini Institute in Genoa.

SLC6A1 Svizzera partecipa allo studio osservazionale MOBI-DEE all'Istituto Gaslini di Genova

We engage patients in clinical or observational studies to support research and promote the development of more effective therapies.
In this specific case, we are taking part in the observational study MOBI-DEE, an international project aimed at better understanding developmental and epileptic encephalopathy.

The study is coordinated in Italy by Prof. Pasquale Striano at the Gaslini Institute in Genoa and involves nine European countries: Italy, Belgium, the Netherlands, Denmark, Germany, France, Spain, and Israel.

The goal is to identify biomarkers (substances found in blood, urine or stool) that may help us better understand the disease, assess it more precisely, and, in the future, develop targeted treatments.

For more information about the MOBI-DEE study, you can contact us at advocates@slc6a1europe.org.
We will be happy to connect you with the specialized center closest to your region.

RESEARCH AREAS

Globally, research on the SLC6A1 mutation focuses on several areas.

The first of these is the study of the gene itself and the protein it encodes, GAT-1. Understanding how GAT-1 works and how mutations compromise its functionality is the first step in developing targeted treatments.

A second important approach is the repurposing of drugs that have already been approved for other uses. This strategy involves evaluating whether active compounds authorised for other conditions could also be effective in treating SLC6A1-NDD (neurodevelopmental disorder). Repurposing existing drugs rather than developing new active compounds reduces the time and cost associated with developing new medicines. The Ravicti Trial, which demonstrated the efficacy of Ravicti (containing the active compound glycerol phenylbutyrate) in patients with SLC6A1-NDD, is an example of this approach.

Gene therapies currently represent our greatest hope for achieving concrete and lasting improvements in the lives of people affected by SLC6A1-NDD. Leading scientific institutions in the United States, Europe, and Australia are working to develop these treatments for the SLC6A1 community. Two main types of gene therapies are currently being developed for the SLC6A1 mutation: antisense RNA therapies (ASO) and gene therapies using adeno-associated viral (AAV) vectors. ASO therapies act at the RNA level (the message that tells cells which proteins to make), aiming to correct or compensate for the effects of the defective gene (for example, by helping the cell read the genetic message correctly) and/or to increase the expression of the healthy allele (that is, encouraging the “good” copy of the gene to produce more protein to make up for the defective one). AAV-based gene therapies use a small, harmless virus (that cannot cause infection) to deliver a functional copy of the SLC6A1 gene into brain cells. Both strategies aim to restore proper production of GAT-1 and to reduce the neurological symptoms associated with the mutation.

Additionally, other innovative therapies are emerging that could open new avenues for treating SLC6A1-NDD.

The recordings (listed below) made during our symposium on August 29, 2025, in Lisbon will soon be available. During the event, our researchers presented the latest results of their studies.

Lindsay Randall, BSc, FHEA, Founder and CEO of SLC6A1 Connnect UK-AQ and Co-Founder SLC6A1 Europe, paediatric Nurse

Opening presentation, introduction to SLC6A1 Europe, why are we here? (Available soon)

Katrine Johanessen, MD, PhD, Danish Epilepsy Centre/University Hospital Copenhagen

Understanding the SLC6A1 Phenotype (Available soon)

Stephan J. Sanders, BMBS, PhD; Prof. of Paediatric Neurogenetics, Oxford

SLC6A1 Loss of Function (Available soon)

Elena Bossi, Associate Professor of Physiology, Insubria, Italy

SLC6A1 European Research Network (Available soon)

Sebastian Silva, MD Paediatric Neurologist, Epileptologist, Denmark

Updating the International SLC6A1 Patients Database at the Danish Epilepsy Center (Available soon)

Jordan Bastoni, Co-Founder of SLC6A1 Spain, Co-Founder of SLC6A1 Europe, Father

Spain Patient Journey - sweet n sour (Available soon)

Tiziana Romanazzi, PhD student, Insubria, Italy

Each SLC6A1 Mutation Tells a Story: Decoding SLC6A1, Variants for Precision Drug Design (Available soon)

Mouhamed Alsaqati, PhD, Neuropharmacologist, Newcastle University, UK

From Network Disruption to Functional Recovery: Modelling Rare Neurodevelopmental Disorders Using Human iPSC-Derived Neuronal Models (Available soon)

Henry Lee, MPhil PhD, Galibra, US

GABA Focused Gene Therapy (Available soon)

Juan Diaz, Research Fellow, Karda Lab, University College London, UK

AAV Alternative Therapies (Available soon)

UCB Belgium

Natural History Study (Available soon)

Alicia Soler, PhD, Head of Scientific Operations, REMEDi4ALL

Europe Regulatory Complexities in Europe (Available soon)

Helen Newton, Mother of adult patient

Diagnostic Odyssey (Available soon)

Dennis Lal, PhD, Director of the Center for Neurogenetics at UTHealth Gene Portals

SLC6A1 and NDD (Available soon)

Vincenzo Crunelli, Professor of Neuroscience, Cardiff University

Activation of astrocytic TrkB-T1 receptors rescues absence seizures and their neuropsychological comorbidities (Available soon)

Elena Bossi, Associate Professor of Physiology, Insubria, Italy

Decoding SLC6A1-NDD: Functional and Pharmacological Insights from Xenopus laevis Oocyte, Models to Understand Transporter Dynamics and Accelerate Drug Discovery (Available soon)

Salvador Martinez Pirez, MD, PhD, Institute of Neuroscience

Spain Fairy Teeth: translating teeth to neurons (Available soon)

Panel Discussion (Available soon)

Torie Robinson, Epilepsy Sparks (Panel Chair)

Asun Diaz - Spanish cohort and Glycerol Phenybutyrate

Lindsay Randall-European cohort and Stiripentol

Sarah Baer -Publication and French Cohort

Alexander Rotenberg

Greta Volpedo, Postdoctoral researcher

Antonella Riva, MD PhD, Genova, Italy

Identification of an epilepsy-linked gut microbiota signature (Available soon)

Andrea Vettori, Associate Professor of Cell Biology, University of Verona, Italy

Phenylbutyrate and HDAC inhibition as therapeutic strategies in SLC6A1-related epilepsy. (Available soon)

Christine Embury, PostDoc Researcher, Young Epilepsy Omaha, Nebraska, USA

OPM.MEG. Study Advancements in Health Technology (Available soon)

Karen Low, PhD, Clinical Genetics, University of Bristol, NIHR Fellow in Rare Genomic Disease, UK

GenROC: 7 SLC6A1 Cases (Available soon)

Narjes Rohani, PhD; Postdoctoral Research Associate, University of Oxford, UK

Mapping SLC6A1: From Expression Trajectories to Enhancer Targets (Available soon)

Sundeep Dugar, PhD, Founder, Blue Oak, US

Mitochondria - Irrespectively Involved (Available soon)

PM Nick Lench, NATA, UK

iPSC Expertise (Available soon)

We also invite you to watch the videos from the international scientific symposia organized by SLC6A1 Connect on the website www.slc6a1connect.org, under Resources > Scientist Resources.

There you’ll find recordings from:

2024 SLC6A1 Connect Symposium
2023 SLC6A1 Connect Symposium
2022 SLC6A1 Connect Symposium
2019 Scientific Symposium

These videos offer a valuable glimpse into the global effort underway to better understand and treat the SLC6A1-NDD.