Meet the team: Neurogenetics group

Partnership and collaboration are at the heart of the vision for the Zayed Centre for Research by bringing together the collective expertise of GOSH and ICH. Together we are in a unique position to bring the discoveries made in the laboratory to the patients we see – and other children across the world.

Meet some of the teams who will be at the heart of the Zayed Centre for Research.

Our lab is mainly involved in discovering new genes and to explore disease mechanisms using iPSC-derived neuronal models, especially understanding disease causing childhood epilepsy and movement disorders.

We are interested in applying this knowledge to develop novel therapies for children with those neurological conditions. We are also actively engaged in training the next generation of scientists at the undergraduate, graduate and postdoctoral level.

To investigate the genetic basis of these disorders we use both single gene screening, whole exome, and genome sequencing. This involves various genetic techniques within the lab as well as the use of in silico analysis tools. Our iPSC-derived neuronal approach involves the use of patient-derived cells and apply various cellular and molecular techniques in order to understand putative disease mechanisms.

Our group typically moves between the lab and the office, performing a range of analyses, including molecular and genetic techniques. We always interact with each other, whether it is for sharing experimental results, discussing about troubleshooting experiments, or simply around a cup of tea during our break time. We regularly attend seminars and conferences, and we also hold a monthly journal club to keep us up to date with the latest research in the field. We also have strong collaborative relationships with a number of UCL groups (Institute of Neurology, Institute for Women’s Health and School of Pharmacy) and clinical networks given the translational aims of our research.

Over the last few years, our group has identified a number of disease-causing genes, including KMT2B, causing childhood dystonia, SLC39A14 in childhood onset dystonia-parkinsonism, and SLC12A5 and CACNA1B causing early onset epileptic encephalopathy. Our group was the first in ICH to develop expertise in iPSC-derived neuronal modelling. Many group members are funded through personal fellowships and have won national and international accolades for their research.

The Zayed Centre for Research will be a world-leading centre of excellence, where the co-localisation with other stem cell/translational groups, the knowledge, and the technology on-site will clearly benefit our group to thrive towards the discovery, treatment and find cure for young people affected by rare diseases.