Tucci, A; (2013) The use of next generation sequencing technologies to dissect the aetiologies of neurodegenerative diseases. Doctoral thesis (PhD), UCL (University College London).

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Abstract

Advances in next generation sequencing technologies have brought a paradigm shift in how medical researchers investigate human disorders. Whole exome sequencing (WES) allows to comprehensively study, in a single experiment, coding variations of a human genome. My PhD thesis focuses on the use of WES to dissect genetic aetiologies of neurodegenerative diseases. First, I present a pilot study where I prove the feasibility of this technology and I test the methods used in the following projects. I then describe the use of WES in rare Mendelian disorders: i) in patients with Kohlschütter-Tönz Syndrome, where WES has failed to identify the disease gene, because the mutation is in a non-coding region; ii) in a family with Charcot-Marie-Tooth type 6, where coupled with linkage data, WES rapidly identified the mutation causing the disease. Last, I present two projects where next generation sequencing plays an important role in elucidating the role of variants present in two loci (PARK16 and EIF4G1) in Parkinson’s Disease.

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