Lea Lemler

Thesis title: Transcriptome-wide association analysis of survival in colorectal cancer patients


Former Data Scientist - Hewlett Packard Enterprise (Germany)

MSc Computer Science with Distinction - Queen Mary, University of London (England) 

Research summary

Colorectal Cancer (CRC) is the second leading cause of cancer deaths globally. Whilst tumour stage and various other clinical variables at presentation are strongly associated with outcome, the prediction of survival for individual patient is very imprecise. This has considerable relevance to clinical care because decisions are currently made on the basis of associations made between groups of patient. Hence, there is a pressing need for new approaches to better predict survival that would allow tailoring of treatment interventions to individual patients who would most benefit, and also to improve prognostication to guide patient care. Recent progress in the understanding of the relationship between gene expression and genetics made it possible to identify genes in tumours associated with survival in CRC. The association between transcriptomes1 in normal tissue and survival of cancer patients however is mostly unknown, although evidence does suggest a correlation. It has even been suggested that the expressed genes in normal colorectal tissue are more informative on the individual’s survival than tumours. This study will investigate whether the expressed genes in various normal tissues can be used as a biomarker to predict the survival of patients diagnosed with CRC. The gene expression of cohorts collected at the General Western Hospital (Edinburgh, Scotland), the INTERPHEM Study in Oxford as well as from the Genotype-Tissue Expression (GTEx) Project will be used to build a prediction model of gene expression. Environmental factors will be analysed since they can influence gene expression. A large-scale Transcriptome-Wide-Association Study (TWAS) will be conducted by applying the previously developed prediction algorithms on cohorts without gene expression (5675 CRC Cases of the Study of Colorectal Cancer in Scotland, 4513 CRC Cases of the UK Biobank and 4832 CRC cases of the Cambridge). The TWAS will study the association between the gene expression and survival outcomes. The results could have further implications on the understanding of cancer formation, progression, treatment and management as well as risk and prevention.

Current research interests

RNA- Sequencing Analysis of samples of normal epithelium from human subjects

Project activity

In progress.