My background has been centred on human molecular genetics. I have always had a keen interest in genome regulation, epigenetics, and their interplay in disease states. To pursue my interests, I studied Biomedical Genetics (B.Sc.) and Medical Genetics (Mres), obtaining First-class honours (graduating top of my class) and Merit, respectively.
I conducted my undergraduate dissertation in the lab of Christine Harrison. I focussed on the functional significance of inhibition of SH2B3 in the context of iAMP21, using CRISPR. This was a highly fulfilling experience that provided me with a wide array of wet lab skills and opened my curiosity to haematological disease.
For my MRes thesis, I interned under the supervision of Joris Veltman, focussing on the monogenetic causes of severe male infertility. I performed in-silico and bioinformatic analysis of sequenced exomes from approximately 250 males. Amongst my findings I described a homozygous frameshift (c.676dupT) in the meiosis 1 associated protein (M1AP). Through international collaboration, we found bi-allelic variants in M1AP result in an overlapping phenotype of meiotic arrest and impaired spermatogenesis.
I decided I wanted to return to leukemic research and pursue a PhD. I was extremely interested by the scope of the INTERCEPT-MDS project and as of 2021, I have joined the lab of Epigenetic Therapies led by María Berdasco.
My fascination has always been on pre-clinical research to direct diagnosis or treatment of disease, and this has been reflected in my main research experiences. Through my previous work, I have helped to explore putative subdivisions of iAMP21 and contributed to the discovery of novel genetic markers in the diagnosis for severe male infertility.
Now I am part of an ambitious and exciting team focussed on the therapeutic benefit of targeting epigenetic alterations in cancer. Through a widespread network, we are working with our collaborators to assess the potential of inhibiting the fusion partners of NUP98, mainly NSD1 and KDM5A, through novel compounds.