BSc (Hons), PhD
Marshall-Smith Syndrome (MSS) is a congenital disorder affecting skeletal and neural development due to mutations in the nuclear factor I/X (NFIX) gene. These mutations introduce frame shifts and splice site variants, which result in the production of aberrant transcripts, leading to the production of dysfunctional mutant NFIX proteins. NFIX is a transcription factor that regulates gene expression in many tissues, including lung, kidney, liver, blood, heart, skeleton and nervous system. It binds as homo- or hetero- dimers to the promoter regions of genes where it can act as either a suppressor or activator of gene transcription.
My postdoctoral research focuses on understanding the role of NFIX in the pathogenesis of Marshall-Smith Syndrome and to identify potential treatments for MSS by using a wide range of basic molecular and cellular biology techniques such as cloning techniques, PCR, RT-qPCR, RNA sequencing, western blot, immunohistochemistry, cell culture, cell transfections, microscopy and in vitro expression and reporter assays. My work predominantly focuses on (i) elucidating the mechanisms of action of MSS-associated NFIX mutations on NFIX activity in order to gain greater insight into the role of MSS-associated NFIX mutations in bone development; (ii) identifying pathways that are differentially altered by the MSS-associated NFIX mutations which may represent potential targets for drugs; (iii) identifying compounds that could modulate NFIX activity; and (iv) assessing the efficacy of compounds at modulating NFIX activity and their use as possible treatments for MSS. Prior to starting my postdoctoral work in Oxford, I completed an undergraduate degree in Biological Sciences (Genetics) from the University of Birmingham and a PhD in Genetics from the University of Cambridge, where I investigated pathways and mechanisms of epigenetics and RNA interference. I am a member of the Genetics Society and the Society for Endocrinology.
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome
Kooblall KG. et al, (2023), JBMR Plus
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.
Kooblall KG. et al, (2022), Endocr Relat Cancer, 29, 557 - 568
Hypoparathyroidism: Genetics and Diagnosis
Mannstadt M. et al, (2022), Journal of Bone and Mineral Research
Epidemiology, pathophysiology and genetics of primary hyperparathyroidism
Minisola S. et al, (2022), Journal of Bone and Mineral Research
Fatal COVID-19 outcomes are associated with an antibody response targeting epitopes shared with endemic coronaviruses.
McNaughton AL. et al, (2022), JCI Insight