Samantha Knight group

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Translational genetics: bringing research into clinical practice

We aim to develop advanced technologies for use in the UK NHS and healthcare services globally, and to translate research findings into clinical practice for a range of clinically important conditions.

Our laboratory is affiliated with the Genomic Medicine Theme of the Oxford NIHR Biomedical Research Centre (BRC), an initiative that helps to drive the translation of research from ‘bench to bedside’.

Much of our work has focused on  using microarray technology, an approach that has revolutionised our ability to perform high resolution genome-wide testing. Genetic changes identified include losses and gains of chromosomal material (copy number variants and copy number abnormalities) as well as copy-neutral ones. Clinically, these changes may be benign, directly pathogenic or represent risk factors for disease. It is particularly important to identify those that contribute to disease, not only to improve molecular diagnostic capability and counselling for families, but also to understand mechanisms of disease and biological pathways that, in the future, may lead to targeted therapies for appropriate patient groups.

Collaboratively, our work has contributed to the identification of novel syndromes, most notably a recurrent 17q21.31 microdeletion syndrome and 15q24 and 15q13.3 microdeletion syndromes.

To realize fully the potential of microarray testing in clinical practice, we are now investigating other clinical disorders, such as B-cell chronic lymphocytic leukaemia (CLL), and maximizing utility for other applications, for example by supporting next generation sequencing (NGS) efforts, assessing the genetic integrity of induced pluripotent stem cell lines, and for pre-implantation genetic diagnosis.

Our CLL microarray studies have already shown improved capability over cytogenetic approaches used currently in clinical practice to inform diagnosis, prognosis and treatment selection. Now we are making further advances with the implementation of NGS, targeting specific genes of interest.

However, work is still needed to facilitate data analysis within a molecular diagnostic environment and to exploit fully the results to benefit patients. The goal of this continuing work is to enable individually tailored patient treatments, minimize side-effects and mortality and reduce NHS costs.

In the future, our focus will continue to complement the objectives of the Genomic Medicine Theme of the Oxford NIHR BRC.