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个人简介
Following on from my academic career in molecular genetics and neuroscience, in which I was heavily involved in bioinformatics, I am now working in the Informatics team at Oxford PharmaGenesis.
Medical informatics is a dynamic and rapidly growing field required to help manage the exploding volume of biomedical data available in public databases and the academic literature. In response to this, the Informatics team at Oxford PharmaGenesis is supporting our clients by optimizing their use of medical information with innovative data tools and artificial intelligence.
Medical informatics sits at the intersection of healthcare and technology, where information engineering is applied to healthcare. It harnesses the power of data by leveraging information technology to help access, analyse, interpret and visualise biomedical information for research, education and communication.
While studying for my masters degree in Neuroscience at King’s College London I developed an interest in both genetics and lysosomal storage diseases. Following a project screening candidate genes for Amyotrophic Lateral Sclerosis (ALS) in Prof. Chris Shaw’s lab, I subsequently moved to the labs of Dr. Claire Russell and Prof. Rob Harvey at the Royal Veterinary College and UCL School of Pharmacy to study for my Ph.D. In their labs I worked on molecular genetic approaches to modeling neurodegeneration in zebrafish. During this time I gained experience in forward and reverse genetic techniques, Next Generation Sequencing (NGS) and bioinformatic approaches to mutation hunting; I also successfully generated a zebrafish model of juvenile neuronal ceroid lipofuscinosis (JNCL).
Following my PhD, I continued my research with Dr. Emyr Lloyd-Evans where I am funded by the March of Dimes to develop a zebrafish model of Smith-Lemli-Opitz Syndrome (SLOS), a disease of sterol biosynthesis with secondary lysosomal dysfunction, that is hypothesised to be caused by sterol precursor inhibition of the NPC1 protein. I am also utilising my experience to assist in collaborative projects using zebrafish to explore Ca2+ signalling dyshomeostasis in a number of lysosomal storage disorders and test compounds that may affect Ca2+ signalling.
研究兴趣
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CURRENT MEDICAL RESEARCH AND OPINION (2023): S48-S49
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Christian Eichinger,Obaro Evuarherhe,Lisa Law, Marta Radwan, Carly Sellick, Tanina Cadwell, Mike Hugo,Kim Wager
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