University College London (UCL)
Partner Description and Expertise
UCL has a global reputation for excellence in research and is committed
to delivering impact and innovations that enhance the lives of people in the
UK, across Europe and around the world.
UCL Institute of Child Health (ICH),
attached to Great Ormond Street Hospital for Children, is the largest centre in
Europe for clinical and basic research and postgraduate teaching in
children’s health.
The MRC Laboratory for Molecular Cell Biology (LMCB)
investigates fundamental aspects of cell function and their relation to human
disease.
The UCL Institute of Ophthalmology (IO), together with Moorfields Eye
Hospital, is a leading centre for eye research with a focus on prevention and
treatment. The IO led the first gene therapy trial for inherited retinal
degeneration, built on extensive experience in developing AAV viral vectors to
treat eye disease, and has a broad programme for alternative therapies.
The UCL School of Pharmacy (UCL SoP) is one of the most highly-rated pharmacy schools in the UK, with expertise in drug discovery, drug delivery, medicinal chemistry, molecular neuroscience and paediatric medicines.
Role in the BATCure project
Prof. Sara E. Mole is Professor in Molecular Cell Biology at UCL. She is a recognised world leader in Batten disease with over 20 years of experience, with particular expertise in genetics. In 2012, she was awarded the UCL’s Provost’s Award for public engagement for her innovative work in integrating families into a scientific conference – NCL2012. Dr. Mole will act as the overall Coordinator for BATCure. She will chair the General Assembly and Executive Board. The Mole laboratory will contribute particularly to WP1, WP2, WP5 and WP9.
As a Lecturer in Translational Neuroscience at the UCL School of Pharmacy, Dr Ahad A. Rahim’s research focuses on understanding the mechanisms underlying paediatric and early lethal diseases of the nervous system and using this information to develop therapies to treat these devastating conditions. Through the duration of the project, Dr. Rahim’s role will provide expertise in animal husbandry, neuropathology, gene therapy, viral vector technology and behavioural analysis is mouse models of neurodegenerative disease.
Prof. Robin R. Ali is Professor of Human Molecular Genetics as well as the Head of Department of Genetics at the UCL Institute of Ophthalmology. Prof. Ali is a world leader in the field of gene therapy in general and retinal gene therapy in particular, having been the first to translate retinal gene therapy from the laboratory to a clinical setting. His research group has all the expertise and facilities required to generate and purify the adeno-associated gene therapy vectors that will be used for the retinal as well as the CNS/visceral treatment. To make optimal use of his gene therapy expertise, Prof. Ali will be the WP leader for WP7.
Prof. Robert J. Harvey is Professor and Associate Director for Research at the Department of Pharmacology at UCL School of Pharmacy. Prof. Harvey has over 25 years of experience in studying synaptic function in health and disease using molecular biology, zebrafish and mouse knockout models and human genetics. For the project, he will lead WP1 and produce the zebrafish mutants required for WP6 using CRISPR/Cas9 gene-editing technologies working closely with Dr. Rihel and Dr. Russell. He will provide molecular biology support and expertise in imaging and phenotyping for zebrafish and mouse disease models.
Dr. Jason Rihel is a UCL Excellence Fellow in the Department of Cell and Development Biology. He is an expert on behavioural genetics and small molecule screening in zebrafish. Dr. Rihel has extensive experience in collaborative projects, both locally at UCL, where he has shared his mutant-generation platform with the zebrafish community, and internationally. For the purpose of BATCure, Dr. Rihel, along with Drs. Russell and Harvey, will supervise the generation of zebrafish mutant models during WP1 using CRISPR/Cas9 genome editing technology and next-generation sequencing to rapidly identify mutants. He will also assist Drs. Russell and Harvey in behavioural phenotyping and small molecule screening strategies related to WP6.
