2010 - 2014
Dates of Study: Oct 2010 - Sep 2014
Programme: Wellcome Trust 1+3 Programme in Stem Cell Biology
PhD Supervisor: Dr Michaela Frye
Studentship Sponsor: The Wellcome Trust
Thesis Title: Role of NSUN2 in neural differentiation and disease
Public Outreach: Joana was a regular contributor to the University of Cambridge annual Science Festival in 2012, 2013 and 2014.
In January 2015, Joana began working as Chief Operating Officer at 'Healx' - a Cambridge start-up venture, doing data analytics and bioinformatics to find new drugs for rare diseases.
In March 2015 Joana then had a 3-month internship at the World Health Organisation in Geneva.
In September 2015 Joana started a consultancy position as an Associate with London-based company L.E.K.
Intellectual disability (ID), or mental retardation, can have environmental or genetic causes. The genetic forms of ID are caused by mutations in genes that are important for the functioning of either mature brain cells (neurons or glia), or for the development of the brain itself. I am looking at how mutations in the NSUN2 gene, that codes for an RNA-processing enzyme, affects the formation of the different brain cell types from neural stem cells and cause intellectual disability in humans. More broadly, I would like to figure out why this and other enzymes that process RNA specifically cause intellectual disability disorders that are associated with ataxia and cerebellar dysfunction.
- Blanco S et al. (2014). Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. Embo J. PMID: 25063673
- Hussain S et al. (2013). The mouse cytosine-5 RNA methyltransferase NSun2 is a component of the chromatoid body and required for testis differentiation. Mol Cell Biol. PMID: 23401851
- Khan MA et al. (2012). Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability. Am J Hum Genet. PMID: 22541562