Personal profile

Biography

I have had a medical undergraduate education followed by research masters in clinical genetics and a PhD completed at the University of Oslo, Norway in 2022. My doctoral research focused on the discovery of the genetic basis of rare disease using high throughput sequencing technology and the discovery of the molecular mechanism of disease causation using in-silico and in-vitro technologies. I gained valuable experience in analysis of whole exome and whole genome data (WES/WGS), from short read sequencers. This included the use of scripts to produce VCF from fastq files, and filtering of VCF-files to identify pathogenic SNVs and indels in data from patients with rare diseases. Following an EMBO research fellowship, I had a research stay at UMC Radboud (Nijmegen,Netherlands) that allowed me to further my bioinformatics knowledge. I have utilised wet lab molecular tools such as western blotting, chromatin immune precipitation and immunofluorescenceas well as bioinformatic tools such as transcriptomics and chromatin immunoprecipitation and sequencing to understand the molecular mechanism of disease causation.

Qualifications

MBBS, MSc, PhD

Research Interests

Rare disease genetics

Personalised medicine

Immunology and genetics

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