Ciara O'Driscoll

Current Research Projects

The title of my project is the identification and characterisation of the RP25 gene. The RP25 gene is a causative gene for arRP.  The aim of this project was to screen candidate genes in a locus on chromosome 6 and to identify the causative gene. The gene of interest was discovered to be novel and uncharacterised. The purpose of the project has been to identify the full structure of the gene, and to characterise the function of the gene in relation the arRP.

Methodology

• Methodology includes PCR and sequencing analysis
• immunohistochemisty
• immunocytochemistry
• confocal microscopy
• northern blots
• RT-PCR, 5’ and 3’ RACE
• linkage analysis
• western blots.

Selected Publications

1. Abd El-Aziz MM,* Barragan I, *O'Driscoll CA,* Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G.
   EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
   Nat Genet. 2008 Oct 5.
   
2. Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G.
   Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
   Ann Hum Genet. 2008 Jul;72(Pt 4):454-62. Epub 2007 May 29.
   
3. Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS.
   Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
   Ann Hum Genet. 2008 Jul;72(Pt 4):463-77. Epub 2007 May 29.