MOLECULAR GENETIC ANALYSIS

USING TARGETED NGS ANALYSIS

OF 677
INDIVIDUALS WITH RETINAL
DYSTROPHY
PRESENTED BY: Zubair Alam
SP21-RBI-009
COMSATS UNIVERSITY ISLAMABAD, PAKISTAN

Authors: Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, Xiao Dang, Hanne Jensen, Yulan Chen, Niels Bech, Lanlan
Dai, Thomas Rosenberg, JianguoZhang, Lisbeth Birk Møller, ZeynepTümer, Karen Brøndum-Nielsen & Karen Grønskov
OUTLINE
 Introduction
 Aims and Objectives
 Methodology
 Results
 Inherited retinal diseases (IRDs)
- Sequence variations in more than 150 genes
- Heterogeneous conditions
- Retinitis pigmentosa (RP) 1:4000
- Syndromic and non-syndromic
- Autosomal recessive (AR), autosomal dominant (AD),
X-linked (XL).
 Next generation sequencing (NGS)
 Molecular genetic diagnosis
- Genetic counselling and prognosis
- Gene therapy strategies
METHODOLOGY
 677 individuals (Denmark)
- Clinically diagnosed or Suspected
 Coding regions – Together with bp flanking intronic sequence and untranslated
regions (UTRs) of 125 genes – NGS
 Patients and clinical evaluation
- 4 to 100 years age (Mean 53.3, Median 55)
- 493 with no previous record
RESULTS
 Patient characteristics:
- Based on available clinical record - Biobank
- Divided into seven groups
- Generalized retinal dystrophies - RP and cone-rod dystrophies (72%)
- Macular dystrophy - Stargardt disease (17%)
 NGS Panel: