The activity was included in the programme for the official launch of the Gene Therapy Innovation and Manufacturing Centre (GTIMC) at the University of Sheffield on 2nd October 2024.
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.