Author: Anna Phelps

Dravet Syndrome and SCN1A-related epilepsies

New study aims to transform understanding

The ‘SCN1A Horizons Natural History Study’ is anticipated to be a milestone in transforming understanding of SCN1A epilepsies, including Dravet Syndrome, one of the most complex and severe developmental and epileptic conditions. The nationwide study aims to define the seizure, neurodevelopmental, and behavioural characteristics of SCN1A-related epilepsies in 400 children and adults over a period of three years, with the goal of improving and standardising care across the UK.

Dravet syndrome: Chief Investigator, Professor Andreas Brunklaus
Chief Investigator, Professor Andreas Brunklaus

Chief Investigator, Professor Andreas Brunklaus, a Consultant Paediatric Neurologist based at the Royal Hospital for Children, University of Glasgow, announced the launch of the study at the Dravet Syndrome UK Conference in London. “The study welcomes any patients with an SCN1A mutation including children and adults, regardless of disease severity or treatment regime”, he stated. “Glasgow is the first site to launch, recruiting initial patients this week. From January 2024, recruitment will roll out UK wide, across 27 paediatric and adult clinical sites in Scotland, England, Wales & Northern Ireland”.

SCN1A-related epilepsy occurs in around 1 in 12,500 live births in the UK, with Dravet Syndrome occurring in 1 in every 15,000. Despite advances in research about Dravet Syndrome, there remain many important unanswered questions, such as the impact of anti-seizure medications, neurodevelopmental and behavioural comorbidities, and mortality rates (Dravet Syndrome has a higher risk of SUDEP compared to other epilepsies). Using a prospective data collection design, the SCN1A Horizons study will inform a better understanding of the condition and potential treatment options.

Professor Brunklaus added: “Natural history studies have a successful track record, for example in improving care and understanding of neuromuscular conditions. By systematically collecting data in detail and over an extended period, we can address many of the current unknowns in Dravet Syndrome and other SCN1A epilepsies. In addition, collecting data in a standardised way creates an opportunity to raise standards of care, not just in one centre but across the UK and beyond”.

Neurodevelopmental assessments are a key part of this study, informing knowledge beyond the clinical perspective and profiling the neurocognitive development of those with Dravet Syndrome and other SCN1A-related epilepsies over time. During these assessment visits, the research assistants will also collect self-reported data from caregivers, to give a deeper insight into the impact SCN1A-related epilepsies has not only on the individual but also on the families.

Galia Wilson, Chair of Trustees for Dravet Syndrome UK said: “We are very excited about the potential for the SCN1A Horizons Study offers to make a real and lasting difference to those affected by Dravet Syndrome. While there are promising treatments on the horizon, these do not address all aspects of living with this devastating condition. At Dravet Syndrome UK, our strategy is to support research that addresses the continued unmet needs of families. We are delighted to be co-funding this project, and to have announced its much-anticipated launch at our Conference”.

SCN1A Horizons is a non-commercial study, sponsored by the NHS Greater Glasgow and Clyde and funded by a combination of commercial and charity funding. Industry partners include Biocodex, Encoded Therapeutics Inc., Jazz Pharmaceuticals Inc., Stoke Therapeutics Inc. & UCB Inc. The project is also supported by grant funding from Dravet Syndrome UK and Dravet Syndrome Foundation.

For more information about the SCN1A Horizons Natural History Study, including information about participating centres, please contact the study team on

For more information about Dravet Syndrome, including the opportunity to watch Professor Brunklaus’ presentation at the Dravet Syndrome UK conference, visit

David Martin, CEO of the MS Trust to retire

David Martin has announced that following six years at the MS Trust, he plans to retire in early 2024.

During his tenure at the MS Trust, David has overseen the establishment of both the Specialist Nurse and the Advanced MS Champion programmes. Working closely with the NHS, these schemes place Specialist MS Health Professionals in areas of the UK which have the greatest unmet need. The results have directly improved the lives of thousands of people living with MS.

David also expertly steered the MS Trust through the overwhelming early days of the Covid pandemic. During this time demand for trusted information for people living with MS skyrocketed, while at the same time fundraising almost ceased overnight.

In his message to staff David said “The MS Trust is stronger now than at any time since the pandemic. We have financial stability, a strong leadership team, and a skilful and energetic group of staff who are passionate about helping people with MS.”

“Given our position of strength, it feels like the time is right for me to hand over the reins to this wonderful organisation and move on to the next stage of my life.”

Chair of Trustees Caitlin Sorrell said of the news “We are sad that David is moving on, but completely understand his motivations for doing so. He has shown fantastic leadership over his time with us, and the MS Trust is a stronger organisation thanks to his contributions.

The Board of Trustees and the management team at the MS Trust remain fully committed to maintaining our organisational values and providing trusted information to people living with MS, whilst funding more essential MS health professionals across the UK. Together we will continue to make sense of MS.

We will be launching our CEO recruitment process imminently and will announce the appointment once it has been made.”

For more information about the work of the MS Trust email

Karger Publishers Launches its Fourth Annual Vesalius Innovation Award to Advance the Future of Science

For the fourth consecutive year, Karger Publishers is seeking top-of-the-line applicants for its Vesalius Innovation Award. The award is aimed at early-stage startups in the Health Sciences and Publishing sectors that are developing innovative technological solutions with a significant impact in their respective fields.

This year marks the fourth year of the Vesalius Innovation Award, with a total of $25,000 in prizes to be granted to the top performers. The winner will receive $15,000, while the two runners-up will be awarded $5,000 each. 

The focus of this year’s competition is on knowledge communication, patient centricity, and artificial intelligence. Early-stage startups in the health sciences are encouraged to submit their award applications via the dedicated website, from May 15 to September 3. 

The judging panel is comprised of leading Health Sciences and publishing experts, who will evaluate the submissions and provide feedback to the participants. After the evaluation by the jury, the top five shortlisted startups will be invited to present their ideas at the STM Week in London in December. This is an excellent opportunity for the startups to showcase their innovations to a wider audience and gain valuable exposure. 

The Vesalius Innovation Award has been presented in collaboration with the STM Association since its inception, and the organisers are grateful for the continued support of Gold Sponsor Molecular Connections, new Silver Sponsor Park56, alongside the new partner Silverchair.