The visit involved a technology transfer and training program covering several standardized operating procedures (SOPs) related to key analytical techniques — including ELISA, qPCR, ddPCR, and Next-Generation Sequencing (NGS) — used for the quantification of AAV viral titers.

This collaboration represented an important step towards:

• Harmonizing analytical workflows across institutions;
• Strengthening our expertise in viral vector characterization;
• Ensuring reproducibility and consistency in AAV quantification methods;
• Building stronger connections within the ARDAT consortium

For more information follow the link.

Alongside post-doctoral researcher Felix Bubeck, University of Heidelberg presenting his work; “Searching the Hairpin in the Haystack: Tracing the Impact of AAV-ITR Mutations

The Panel Discussion was chaired by Professor Dame Pamela Shaw (USFD) and involved families and rare disease patients already dosed with gene therapies or awaiting to be treated. Attendees included members of the public, academics and industry.

Panel participants:

Mrs Dharmisha Stezaly

Mum to Sebastian who received a treatment of Zolgensma^® for his spinal muscular atrophy (SMA) in 2021. SMA is a childhood form of motor neuron disease. Researchers at Sheffield demonstrated restoration of the missing SMN protein using gene therapy replacement. This pioneering preclinical work provided the confidence for pharma companies to invest in human gene therapy trials which led to FDA approval of Zolgensma^®.

Mr Giles Lomax 

Giles has been the CEO for SMA UK since May 2023 having worked in sport for the last 13 years, Giles has taken his leadership skills and transferred this into lead the charity into its next phase developing a 4-year future focused strategic plan to support anyone affected by Spinal Muscular Atrophy. Giles also brings a deep understanding of the physical and emotional impact on people who are living with SMA, being a father of twins who have SMA type 2.

Mrs Carina Thurgood

Maddi’s mother, Co-Founder of the Maddi Foundation in 2016 as the ‘Save Our Maddi Appeal’. The Maddi Foundation emerged in response to Madeleine Thurgood’s diagnosis of Hereditary Spastic Paraplegia 15 (SPG15).

Carina passionately advocated for raising awareness of SPG15, driving the Foundation’s commitment to advancing research and developing Gene Therapy for this rare genetic disease.

Miss Madeleine Thurgood

Maddi was diagnosed with Hereditary Spastic Paraplegia 15 (SPG15) in 2016. SPG15 is a rare disease caused by nerve injury in parts of the brain. People with SPG15 can experience progressive muscle weakness, leading to difficulty walking and becoming wheelchair dependent. They can also lose the ability to use their arms and additional symptoms such as dementia or juvenile Parkinson’s. Some individuals with SPG15 also have problems with the retina in the eyes, this can cause visual impairment and can affect quality of life. The severity of each of these symptoms is variable in affected individuals.

Mrs Kasey Edwards – Co-founder of CureAP4, Boston, USA

Kasey, co-founder CureAP4 in response of diagnosis of her daughter, Robbie Edwards, for Hereditary Spastic Paraplegia 47 (SPG47).  She is the Community Relations Coordinator at CureAP4. Kasey utilises meaningful research-centred communications and patient-community engagement to drive therapeutic and resource discovery to enhance the quality of life for HSP47 patients and families.

Mr Sean Davies

Sean is 54 years old and works as a tree and landscape officer for Newark and Sherwood district council (NSDC).  He is very fit and athletic. His great great grandfather was John Firth who was a major supporter of the University of Sheffield and the hospital in Sheffield and a key University building is named in his memory.  Sean has a familial neurological condition and is very pleased to have access to the new genetic therapy tofersen.

Read the publication here

In June 2024 the ARDAT consortium celebrated a successful two-day general assembly meeting (GAM) hosted by the University of Sheffield and all our colleagues for an interesting and for the ARDAT project. Lots of progress in this period and a great collaborative spirit. Well done and looking forward to seeing all the publications in preparation.

The third face to face meeting for members of the ARDAT consortium was kindly hosted by the team from the Center for Neuroscience and Cell Biology (CNC) based in the beautiful city of Coimbra in central Portugal. Over 50 individuals from across the consortium met over two days to receive progress updates and discuss progress and future for the four key work packages. The meeting was once again set up as a real time hybrid format so that members who were unable to travel to Coimbra could follow the proceedings and indeed, present their own work to the Assembly.

After a full day of presentations and discussion the meeting moved to the spectacular hall of the Colegio da Trindade to listen to invited speaker Jude Samulski give an entertaining and thought provoking talk on the history of gene therapies, highlighting the challenges and learning that has taken place over the past 50 years.

After the day’s formal proceedings the Assembly decamped to a local restaurant for the Meeting Dinner where discussions continued in a more relaxed environment. It was great to see the professional and personal bonds between individuals and groups developing.

As before, the second day was given over to breakout meetings where the different work package teams could sit down and engage in a thorough review of progress, roadblocks, issues and mitigation, very important ahead of the Project’s Mid-point Review on the 29^th June.

In summary, this was another successful meeting where it was obvious that real strides are being taken to achieving the objectives of the ARDAT project.

The plenary session underway with remote presenters contributing via video link

Programme leader Mimoun Azzouz opening the meeting

The participants in the Third ARDAT General Assembly

ARDAT team members socialising at the Meeting Dinner

Jude Samulski Presenting his talk in the Colegio da Trindade