Oriol Fornes Crespo

Project Description

Over 60,000 BC residents (many of whom are infants) have some degree of vision loss (CNIB - Fast Facts about Vision Loss). Moreover, up to 10% of BC children will experience a mental illness before reaching adulthood (Mental Illnesses in Children and Youth). Furthermore, 3% to 5% of children living in BC are currently being affected by seizures (Approach to the Child with a Seizure), the most common neurological disorder of the pediatric population. A subset of these disorders have genetic causes, of which most are not treatable.  
Gene therapy has the potential for treating numerous genetic diseases. The concept is simple: gene therapy delivers and activates a gene to replace an abnormally functioning gene, thereby restoring the function of that gene. Much progress has been made in the field of gene therapy, with approved treatments for some disorders now available in Europe and North America (Naldini 2015). To accelerate the development of gene therapies for more disorders and improve both their efficacy and safety, it is important to restrict the activation of the delivered gene to affected cells only.  
I develop bioinformatics tools for the design of short DNA sequences, which are then packed inside adeno-associated virus vectors, to specifically activate delivered genes in targeted cells only. My research will accelerate the development of gene therapy treatments while increasing their efficacy and safety. Ultimately, the beneficiaries will be patients with genetic diseases in need of treatment, specifically children suffering from brain and eye genetic disorders.

Research Interests

Computational Biology
transcriptional regulation
Structural biology

Research Methodology

transcription factor binding data (ChIP-seq)
dna accessibility (DNase-seq and ATAC-seq)
histone marks (H3K27ac, H3K4me1...)
chromatin interactions (Hi-C)
transcriptionally active regions (CAGE and GRO-seq)
conservation (PhyloP scores and Multiz 100-ways alignment...)


Faculty of Medicine