Target enrichment of transposable elements for direct RNA sequencing

This project focuses on transposable elements (TEs), which make up nearly 50% of the human genome and are linked to various diseases.

LINE1, a significant class of TEs, accounts for 17% of the genome and remains active in moving within it, making it crucial to understand its role in diseases such as haemophilia, Duchenne muscular dystrophy, and Dent disease.

The primary goal is to develop and optimize target enrichment methods for nanopore-based direct RNA sequencing to accurately analyse LINE1 RNA, addressing challenges like low read counts and high error rates without the need for reverse transcription or PCR, thereby reducing biases and improving accuracy.

With a chemistry background, the student will acquire skills in genomic research while enhancing communication and engagement abilities by considering the ethical implications of the work and participating in public outreach.

By uncovering the full LINE1 sequence, the project could lead to small molecule inhibitors that prevent LINE1 insertions, advancing treatments for genetic diseases and personalized medicine.