- 28 Mar, 2021
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PhD outline
Identification of underlying genetic interactions (Modifier genes) in large cohorts of patients that carry different causative mutations of Joubert syndrome by applying bioinformatics and statistical analysis. The research group have started to discover the complexity of the inherited Joubert syndrome in detail providing insights that can be exploited to develop novel therapeutics.
I would like to work on Joubert syndrome modifier genes discovery particularly genes that associated with renal diseases. (nephronophthisis “NPHP”).
The methods are primary. These are ‘applying bioinformatics and statistical analysis’.
This will be their first draft of a PhD outline as a part of the admission process. It should illustrate a plan in the context of the modifier gene (related to renal diseases) identification in Joubert syndrome. Structure I would like you to use appropriate statistical and bioinformatics methods in order to choose a candidate genes linked to a specific phenotype (such as Joubert syndrome associated with renal disease) with variable severity to study the possibility of discover modifier genes.