Amber Sehr Minhas

Thesis title: Improving the prediction and treatment of human genetic disease by exploring the proteome-level impacts of dominant-negative mutations

Background

I completed a BSc in Biomedical Science and an MSc in Industrial Biotechnology (IBioIC) at the University of Strathclyde, including a placement at the Roslin Institute. I most recently worked in industry as a Genetic Scientist in the field of next-generation sequencing, and I am now an MRC-funded PhD student in the Precision Medicine DTP studying dominant-negative disease mechanisms, with the aim of improving our understanding of how they contribute to disease.

Qualifications

BSc (Hons) Biomedical Science, University of Strathclyde

MSc Industrial Biotechnology (IBioIC), University of Strathclyde

Research summary

My research aims to understand how different genetic mutations alter protein behaviour and contribute to disease. I am particularly interested in dominant-negative mutations, where a faulty protein is still produced and interferes with normal cellular processes rather than simply being lost. My work explores how these mutations affect protein interactions and complexes, combining computational and experimental approaches to better understand disease mechanisms and improve variant interpretation in precision medicine.

Current research interests

Dominant-negative disease mechanisms • Protein complex assembly • Pathogenic variant effects on protein complexes • Proteomics