Project

Exploring the role of non-coding variation in hereditary blindness: Stargardt disease as a model

Code
3F001513
Duration
01 October 2013 → 30 September 2017
Funding
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
next-generation sequencing non-coding DNA Stargardt disease retinal dystrophies
 
Project description

The objective of this study is to unravel the role of non-coding variation in Stargardt disease, a frequent cause of hereditary blindness. First, the regulatory domain of the disease gene will be delineated en characterized. Using next-generation sequencing mutations in this region will be identified, after which they will be filtered using an integrative filtering strategy and several functional tests.