PhD position: Definition of transcriptional units of Inherited Retinal Disease genes.

ProgRET is a Marie Skłodowska-Curie Doctoral Network (2024-2027), offering 10 PhD positions, who will address the knowledge gaps to understanding, diagnosing and treating Inherited Retinal Diseases. The objective of ProgRET is to train a new generation of vision researchers specialising in inherited retinal diseases (IRD).
Eye diseases are among the most common inherited human disorders. Vision research has often blazed a trail for many disciplines to follow, giving a lead in multi-omics, stem cell biology, genome editing, animal models of disease, and the development of novel therapeutic approaches such as gene therapy. In recent years, human geneticists, have identified a large proportion of the genes implicated in IRD. Despite this progress the most important challenges in the IRD field relate to the diagnosis, understanding as well as therapy development of autosomal dominant IRD (adIRD). There are an estimated 925,000 affected individuals worldwide, representing 25%–40% of IRD. As we have demonstrated an emerging role for complex structural variants (SVs) and defects in non-coding regions such as non-coding RNAs and cis-regulatory elements in adIRD, we hypothesize that these may explain unsolved IRD cases and may represent novel targets for intervention.
The objective of ProgRET is to conduct advanced vision research that addresses the knowledge gaps to understanding, diagnosing and treating autosomal dominant inherited retinal disease (adIRD), using innovative approaches related to genomics, transcriptomics, epigenomics, multi-omics, bioinformatics, gene regulation, retinal stem cell models, organoids, aquatic animal disease models, and therapy development.
We will pursue the following specific research objectives: 1. To understand mechanisms of adIRD using retinal stem cell and aquatic animal models; 2. To advance diagnostics in adIRD using a single-molecule multi-omics framework; 3. To develop novel therapeutics for adIRD using RNA therapy and genome editing.
Application Deadline: 26 May 2024 - 23:59 (Europe/Paris)
 
Researcher Profile: First Stage Researcher (R1)
 
Research Field: ’(Human) Genetics’, ’Molecular Biology’,  ’Biomedical research’, ’translational research’, ’integrative omics’, ’(Applied) Bioinformatics’.
 
Type of Contract: Temporary
 
Job Status: Full-time
 
Offer Starting Date: Ranging from 1 September - 1 November 2024