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Research

What we do

Rapid skin sheets for gene therapy

Led by Vignesh and George

We aim to accelerate the growth of engineered epithelial grafts for skin rare diseases while preserving their self-renewal properties.

 

Co-supervise with Prof Li and funded by the MRC.

 

Figure. Accelerated differentiation and proliferation of keratinocytes, tracked at single-cells resolution

Natural history of micronutrient deficiencies

Led by Jas

We aim to understand the pattern of local adaptation to micronutrient deficiencies (Selenium, Zinc, Iron and others) as humans migrated around the world. These deficiencies are a global health burden worldwide and particularly prevalent during pregnancy and early childhood.

Figure: Signatures of selection across world-wide human populations in micronutrient genes

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Determinants of iPSC differentiation success

Led by Pau

We aim to understand which factors drive the success of iPSC models of development or rare disease. As it happens, the in vitro accumulation of deleterious variation likely plays a major role. See bioRxiv manuscript.

 

Co-supervised with Assistant Prof Kilipinen, now in Helsinki. Funded by the GOSH BRC and Wellcome (to Kilpinen)

Figure. Excess of deleterious variation in the BCOR gene during dopaminergic differentiation.

Severe pre-eclampsia: molecular causes and consequences

Led by Dorian, Yara and Leysa

We aim to unveil the molecular underpinning of pre-eclampsia, which has no treatment and only resolves upon delivery. We apply single-cell and spatial transcriptomics to interrogate the maternal-fatal interface throughout gestation as well as interrogating potential infections.

Co-supervised with Assistant Prof Hillman Dr Kristiansen and Prof Sebire. Funded by the MRC.

 

Figure. Single-cell deconvolution of cell types across a tissue slide of the placenta.

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Childhood Leukaemias: treatment, resis-tance and CAR-T targets

Led by Ilaria, Eduardo and George

We aim to profile resistant cells in CML and AML at single-cell resolution, including the transcriptome, surface proteome and driving mutations. We also test CAR-T properties as well as their life cycle, from infusion to expansion. See bioRxiv manuscript.

Mainly supervised by Assistant Prof Giustacchini. Funded by TAS, AMS (to Giustacchini) and the GOSH BRC.

Figure. Individual cells carrying the BCR-ABL mutation, in red.

Assessing Genomic Risks in gene therapy

Led by Dimah

We aim to provide quick and robust measures of viral vector integrations in patients undergoing gene therapy. We apply highly optimised capture and enrichment approaches, followed by stringent computational analysis. 

Co-supervised with Dr Williams and funded by KACST.

Figure. Sensitivity and specificity of the identification of viral vector integrations in the genome at different stringencies.

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B6-dependent epilepsies

Led by Fatimah

We aim to investigate different childhood epilepsies responsive to B6 treatment using Mass Spec approaches.

Mainly supervised by Prof Mills and funded by KFMC.

Figure. LC-MS of B6 vitamers.

Support to GOSH BRC project calls and other research at UCL and GOSH

Led by Dorian, Yara, George and Pau for research and UCL Genomics for service

We provide experimental and computatio-nal support to certain projects at UCL and GOSH, in particular those supported by the GOSH BRC

For genomic services, contact UCL Genomics, including for single-cell and spatial transcriptomics services.

Figure. Research and services we contribute to.

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