As an academic clinician, I am intent on adopting genomics into mainstream healthcare for rare eye disease. I have made contributions that span the translational spectrum from basic science, through fundamental understanding of major causes of childhood and adult visual disability, to innovative clinical services delivery. I believe that a complementary expertise in detailed diagnostic classification (’deep phenotyping’) aligned to molecular discovery is able to develop novel biological insights that catalyse discovery of interacting networks and inform biological models. My work spans:
i) Discovery; for example this has demonstrated how different mutations at a single locus can produce different diseases (e.g. Bestrophinopathies) and demonstrated what has now become well recognised, that somatic mutational mosaicism gives rise to distinct phenotypes. My work has a broad relevance including developmental eye disease (anterior segment, congenital cataract); corneal disease; inherited retinal disease; optic nerve disease and spans both children and adults.
ii) Translation; Genomic sciences are profoundly technology-driven. I manage the team that delivers diagnostic testing for retinoblastoma, congenital cataract and lens dislocation disorders, inherited retinal dystrophies. I have adopted and extending state-of-the art technologies in order to develop the efficient NGS-based diagnostic NHS diagnostic genomic services that now encompass an increasing number of diseases. Since whole exome and whole genome sequencing (WES, WGS) are also emerging I have also focussed on increasing the bioinformatics components of this work. I believe that is important for clinical research focus to shift towards improved treatment and management; for example, I am leading an improvement science programme to develop a novel care pathway for congenital cataract and have been involved as regional lead for the recent gene therapy trial for choroideremia (publication 2).
iii) Public engagement; In developing genomic diagnostic services for inherited ophthalmic disease I have worked closely with patients and patient groups, senior genetic counsellors and visual Impairment organizations to ensure engagement and support in patient-focused Health Services research based on 2 programme grants. This has ensured that both research and clinical developments are aligned to patient need. This included working on the James Lind Alliance priority setting partnership for vision research and working closely with patient groups within the multicentre Regard study (funded by Fight for Sight; see below). Health economic and qualitative healthcare approaches have led to innovative strategies for patient management and collaboration in clinical trials.