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- In 2011, 27 students completed the MSc in Genetics of Human Disease programme. We are pleased to announce that twelve students graduated with a distinction and ten students with a merit.
Congratulation to Abhishek Nag for achieving the overall highest marks in the MSc in Genetics of Human Disease. Abhishek was awarded the UGI Masters Prize and received a certificate and a cash reward of £100.
Abhishek's testimonial: As part of my MSc thesis, I worked on a computational project at the UCL Genetics Institute (UGI) under the supervision of Dr. Vincent Plagnol. We investigated the association of exonic copy number variants with Tourette’s syndrome, a type of childhood-onset neurodevelopmental disorder. Our study showed a significant excess (approximately 9%) of large (>500 kb) CNVs in Tourette’s syndrome cases, thus indicating their causal role in Tourette’s syndrome. Candidate genes overlapping these CNVs were found to be enriched in genes functionally involved in neuronal cell adhesion and nervous system development.In October 2011, I started a PhD to study the role of rare variants in glaucoma using whole genome sequencing data at the department of Twin Research and Genetic Epidemiology, King’s College London. The study is funded by ‘Fight for Sight’.
Congratulations to Caroline Smith who was awarded the UGI Masters Prize for Best Project titled "Molecular Genetic Basis of Jeune’s Asphyxiating Thoracic Dysplasia" (Supervisor of the project: Dr Hannah Mitchison, Molecular Medicine Unit, Institute of Child Health). Caroline was also given a certificate and £100 cash reward.
Caroline's testimonial: I am honoured to receive the prize for ‘Best Research Project’, especially as I know how much hard work all my colleagues put into their projects. I had the opportunity to work with Dr Hannah Mitchison at the Molecular Medicine Unit at the Institute of Child Health. My project, entitled ‘Investigating the Molecular Genetic Basis of Jeune’s Asphyxiating Thoracic Dysplasia’, focused on two mechanisms of gene detection in monogenic disease. I screened a putative disease causing gene, identified through linkage analysis, for mutations and interpreted whole exome sequence data from three affected consanguineous sib pairs.
- I took a year sabbatical from my Specialty Training in Surgery to take this MSc. My aim was to learn more about how new genetic techniques could be use to unravel disease mechanisms, in particular developmental abnormalities. I have gained more than I hoped: with improvement in my knowledge of statistics; and grounding in lab based and in-silico molecular genetics investigative techniques. I hope to take this knowledge forward in my work as a Doctor in future research, interpreting papers utilising novel genetic techniques; and working as a clinical liaison to the genetic research community
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