PhD Fellow
University of Cambridge
Dr Janine Collins, MB BChir MRCP, is an MRC-funded Clinical Research Training Fellow in the Department of Haematology at the University of Cambridge. Janine is conducting her research on inherited platelet disorders under the supervision of Professors Willem Ouwehand and Cedric Ghevaert. The primary focus of her PhD studies and experimental work is NBEAL2, the gene in which rare biallelic pathogenic variants lead to Gray Platelet Syndrome. Throughout the course of her PhD, Janine has developed a keen interest in genomics and genetically uncharacterised inherited platelet disorders. She has been grateful for the unique opportunity to interrogate the linked genotype and phenotype data in UK Biobank to determine the effects of rare variants in platelet disorder genes on clinical phenotypes. Janine has also explored the interplay between rare monogenic and polygenic contributions to platelet count. She is interested to understand how a patient’s polygenic score could potentially influence the management of both thrombocytopenia and thrombocytosis.