Anna LeFevre
Anna Le Fevre is a consultant clinician in paediatric clinical genetics who has joined the Blewitt laboratory as a PhD student. Anna completed her medical specialist training in clinical genetics at the Victorian Clinical Genetics Service, MCRI, in Melbourne and her general paediatric training in NSW and Monash, Victoria.
Anna’s interest in epigenetics emerged from an exploration of atypical presentations of Angelman Syndrome associated with mosaic methylation defects.
This interest, alongside a passion for contributing to research into novel treatments for rare genetic disorders led her to undertake her PhD at the WEHI.
Anna has joined the Prader-Willi Syndrome (PWS) Project, a joint venture of the Blewitt lab and collaborators, exploring the potential role of SMCHD1 in reactivating the maternal allele at the Prader-Willi Syndrome locus. This allele is normally silenced by epigenetic imprinting. PWS and Schaaf-Yang Syndrome are rare genetic neurodevelopmental disorders associated with dysfunction of the normally active paternal allele at this locus. Reactivation of genes in this locus presents a promising therapeutic approach targeting the underlying cause of these conditions. In her PhD, Anna will be exploring the role of SMCHD1 in silencing the human 15q11.2-13 locus, which may identify locus-specific ways of removing SMCHD1 function and identify co-regulators that could be harnessed in future therapy.
Anna's other interests include new and expanding gene-disease associations, rare disease diagnosis and genomics education of medical professionals.
Abstracts this author is presenting: