Investigating Novel Transcription of the X Chromosome and

Summary

We hypothesise that annotation of genes and transcripts on the X chromosome is incomplete particularly in the human brain. Furthermore, we hypothesise that this limits our ability to diagnose X-linked neurodevelopmental disorders, and to generate effective novel therapies for existing disorders, such as the X-linked disorder beta-propeller protein-associated neurodegeneration (BPAN).

Project aims

The aims of this project are:

To undertake transcript discovery using long-read RNA sequencing for genes on chromosome X in human brain and iPSC-derived brain-relevant cell types.
To perform targeted long-read RNA sequencing of WRD45 in cellular and organoid models of beta-propeller protein-associated neurodegeneration (BPAN).
To utilise the identified transcripts derived from both aim 1 and 2 to enable further diagnostic discovery of patients affected by X-linked brain disorders through re-analysis of data generated as part of the 100,000 Genomes Project.

Contact details

Professor Mina Ryten - mr2022@medschl.cam.ac.uk

Opportunities

This project is open to applicants who want to do a:

School of Clinical Medicine | University of Cambridge

Study