Harnessing big data to improve healthcare quality has become something of a holy grail for regulators. While England’s Care Quality Commission is an acknowledged leader, the applicant has shown that its use of big data has not improved regulatory effectiveness, raising wider questions about the potential utility of this approach. In response, this pilot project will explore how other countries’ healthcare regulators use big data and will draw on comparisons with England’s experience, which has already been documented by the applicant and others, to identify and help understand common problems and opportunities for improvement. To that end this project will combine desk-based research and qualitative interviews and workshops with regulators and other stakeholders to: 1) Map the use of big data for healthcare quality regulation across all 31 high-income OECD countries; 2) Explore four country case-studies reflecting a range of data-usage patterns and payer-provider-regulator configurations, in order to develop hypotheses about the factors shaping the use and effectiveness of big data; 3) Lay the groundwork for a larger follow-up study by securing data-access and collaboration agreements to test those hypotheses and assess the barriers to improving healthcare quality regulation with big data.

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe skin disease with no cure. Normally, two layer of the skin are held together by rope like structures called anchoring fibrils, which are made of Type VII Collagen (C7). However, in patients with RDEB the anchoring fibrils don’t work and the layers of the skin are fragile, resulting in blistering, chronic wounds, and cancer. RDEB is caused by mutations in the gene COL7A1, which makes C7. I aim to correct those COL7A1 mutations with new gene editing tools called base editor and prime editor, to fix the anchoring fibrils in patient cells. After editing COL7A1, I will use molecular techniques including Sanger sequencing, qPCR, western blot and immunofluorescent microscopy to confirm if the edit worked and if it fixed C7 function. It’s also important to know whether the gene editors have affected areas of the DNA which I don't want to edit, so I will do “off-target analysis” to test the safety of these tools. Additionally, I aim to make 3D models of "RDEB skin in a dish" to aid future research. By the end of my PhD I aim to have aided the development of potential cures for RDEB.

The goal of the programme is to train a new generation of researchers in the advanced therapies that underpin regenerative medicine, including cell transplantation, gene therapy and endogenous tissue repair. At the heart of this young field is the importance of translating laboratory-based studies to patient benefit. Thus, students will gain knowledge of the underpinning discovery science, and clinical and commercial applications. Moreover, to foster translation we will bring together researchers in different disciplines, so that the students appreciate the creative possibilities of working at the interface between different fields. Supervisors are drawn from across King’s College London, spanning clinical, nonclinical, early, mid-career and senior researchers. The first year comprises three rotations, combined with taught courses and master classes, leading to the award of an MRes. This is followed by three years of focused research. Partner organisations and secondments provide additional training opportunities. From the outset, the programme emphasizes growing as a scientist, exploring post-PhD opportunities, and the scientist in society. Students and their supervisors are seen as partners in a journey, with a special focus on fostering mutual respect and understanding.

Neurocristopathies caused by defects in the neural crest (NC) encompass a broad group of diseases from birth defects (cleftvpalate) to complex syndromes affecting systems such as heart, gut and adrenals. Because NC derivatives are diverse, mutations affecting this lineage can lead to pleiotropic phenotypes making it difficult to understand the causative events. Furthermore, NC-derived cancers, (e.g. melanoma and neuroblastoma) reactivate embryonic programs during tumour initiation. Our aim is to create a unique interdisciplinary network of scientists and clinicians partners from academia, healthcare, industry and the public sector with experience in gene discovery, genetics, functional studies and in vivo phenotyping aimed at training creative and innovative ESRs to study the overall genetic, molecular and environmental regulation of NC tissue in human health. To study each of complex aspects of NC and tumour formation, NEUcrest provides a synergistic framework for comprehensive analysis of candidate genes and biological processes, from patients to model systems to pharma and back to the clinic. With the aim to develop a unified strategy to identify new genetic and environmental factors that contribute to disease and to develop new drug targets for therapeutics, ESRs will address following scientific challenges: undertake novel gene discovery approaches; establish cellular/animal models of disease; establish integrative strategies for understanding neurocristopathies; optimise computational modelling of NC gene networks; establish translational strategies for drug screening in NC-related diseases; improve clinical management strategies of NC-disease and interface with patients and the public. Our training program takes into account training through research as well as multidisciplinary partnerships and networking opportunities. All together, this will improve our understanding of the fundamentals of neurocristopathy and contribute to improvements in healthcare.