Jacqueline van der Spuy

Jacqueline van der Spuy is a Professor of Molecular and Cellular Biology at the University College London (UCL) Institute of Ophthalmology, part of the Faculty of Brain Sciences. She joined UCL as a Wellcome Trust Travelling Research Fellow in 2000 and has since risen to her current professorship, establishing herself as a leading researcher in inherited retinal diseases.

Her educational background includes:

• Doctor of Philosophy from University of the Witwatersrand, Johannesburg, South Africa (1996-2000)
• Bachelor of Science in Medicine (Honours) from University of Cape Town, Rondebosch, South Africa (1995)
• Bachelor of Science from University of the Witwatersrand, Johannesburg, South Africa (1991-1994)

Professor van der Spuy's research focuses on understanding the molecular basis of inherited retinal dystrophies (IRDs) and developing targeted treatments. Her laboratory utilizes gene-edited and patient-derived induced pluripotent stem cells (iPSCs) to create sophisticated models of retinal diseases, including three-dimensional retinal organoids. These models allow her team to investigate disease mechanisms at the cellular and molecular levels and to test potential therapeutic interventions such as gene therapy, CRISPR-based editing, and pharmacological approaches. Her work spans from fundamental molecular neuroscience to translational applications, with particular emphasis on Leber congenital amaurosis and other early-onset retinal degenerations.

Analysis of her recent publications reveals a strong focus on developing advanced cellular models of retinal diseases, particularly using CRISPR-edited and patient-derived iPSCs to create retinal organoids. Her research increasingly incorporates cutting-edge gene editing technologies like base editing and prime editing to correct disease-causing mutations. There's also a clear translational trajectory in her work, with several studies moving toward clinical applications, including a first-in-human gene therapy trial for AIPL1-associated retinal dystrophy published in 2025.

Her scientific contributions have been recognized through several awards and distinctions:

• Associate of the Higher Education Academy
• Post-Graduate Certificate in Learning and Teaching in Higher Education
• School of Life and Medical Sciences Education Innovation Award (2013)
• Wellcome Trust Travelling Research Fellowship (2000)

Professor van der Spuy has made significant contributions to academic leadership and mentoring. She currently serves as the Director of the Master of Research (MRes) in Brain Sciences programme at UCL Faculty of Brain Sciences, where she has guided numerous students into competitive PhD programs. Previously, she directed the Vision Research pathway of the MRes programme and the Master of Science in Biology of Vision programme. As the lead Departmental Graduate Tutor for postgraduate research students at the Institute of Ophthalmology, she plays a key role in supporting early career researchers. Her teaching expertise is reflected in her development of specialized modules on topics ranging from gene editing in inherited retinal dystrophies to photoreceptor cell biology.

Her laboratory represents a multidisciplinary team combining expertise in molecular biology, stem cell technology, gene editing, and ophthalmology to tackle challenging questions in retinal degeneration. The lab maintains strong collaborations with clinical partners at Moorfields Eye Hospital and other international research institutions, facilitating the translation of basic science discoveries into potential therapies for patients with inherited retinal diseases.