The pathophysiology of inherited optic atrophy.

Lead Research Organisation: Cardiff University
Department Name: School of Medicine

Abstract

Abstracts are not currently available in GtR for all funded research. This is normally because the abstract was not required at the time of proposal submission, but may be because it included sensitive information such as personal details.

Publications

10 25 50
 
Guideline Title Testing for inherited optic neuropathy
Description OPA1 gene test
Geographic Reach National 
Policy Influence Type Citation in clinical guidelines
Impact Improved service delivery of genetic testing for inherited optic neurpathy
 
Description MRC Research Grant
Amount £600,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 09/2008 
End 08/2011
 
Description MRC Research Grant
Amount £200,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 06/2006 
End 06/2009
 
Description PhD student
Amount £25,000 (GBP)
Organisation Cardiff University 
Sector Academic/University
Country United Kingdom
Start 01/2006 
End 12/2008
 
Description PhD student
Amount £25,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2006 
End 12/2008
 
Description PhD student
Amount £25,000 (GBP)
Organisation Cardiff University 
Sector Academic/University
Country United Kingdom
Start 10/2004 
End 09/2007
 
Description PhD student
Amount £25,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 10/2004 
End 09/2007
 
Description Travel Award
Amount £1,200 (GBP)
Organisation The Royal Society 
Sector Charity/Non Profit
Country United Kingdom
Start 05/2006 
End 06/2006
 
Description Wellcome Trust Summer Studentship
Amount £1,800 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2007 
End 09/2007
 
Description Wellcome Trust Summer Studentship
Amount £1,700 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2006 
End 08/2006
 
Title ADOA Archive 
Description DNA from >600 patients over 15 years with ADOA 
Type Of Material Biological samples 
Provided To Others? No  
Impact Clinical screening for OPA1 mutation carried out by direct sequencing 
 
Title New -80 
Description New equipment 
Type Of Material Improvements to research infrastructure 
Year Produced 2009 
Provided To Others? Yes  
Impact Not yet 
 
Title Opa1 mutant mouse 
Description Novel mutant B6;C3-Opa1 Q285 STOP 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2007 
Provided To Others? Yes  
Impact ongoing research 
 
Title Opa3 mutant mouse 
Description B6;C3-Opa3 L122P 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2008 
Provided To Others? Yes  
Impact ongoing reearch 
 
Title anti-Opa1 
Description Generated an anti-Opa1 polyclonal antibody. 
Type Of Material Antibody 
Year Produced 2007 
Provided To Others? Yes  
Impact Probing Opa1 cellular function. 
 
Description ATM MEH 
Organisation Moorfields Eye Hospital NHS Foundation Trust
Department NIHR Moorfields Biomedical Research Centre
Country United Kingdom 
Sector Academic/University 
PI Contribution This is a joint collaborative deep phenotyping cohort study collaboration on mitochondrial inherited optic neuropathy.
Collaborator Contribution Patients with ADOA: clinical and genetic details.
Impact The partnership has started in the last quarter of 2013.
Start Year 2013
 
Description NCL PC 
Organisation Newcastle University
Department Mitochondrial Research Group
Country United Kingdom 
Sector Academic/University 
PI Contribution Providing the samples from Opa1 mutant mice for analysis and electron microscopy and shared analysis
Collaborator Contribution shared knowledge and expertise in electron microscopy
Impact PubMed ID 19234344
Start Year 2007
 
Description RD City University 
Organisation City, University of London
Department School of Health Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Student and PI took measurements and used equipment from collaborator together in joint experiments.
Collaborator Contribution Pupillometry measurements in Opa1 and Opa3 mutant mice.
Impact Publication 17428816
Start Year 2007
 
Description University of California UC Davis Opa1 
Organisation UC Davis Medical Centre
Department Department of Cardiology
Country United States 
Sector Hospitals 
PI Contribution generation of Opa1 mice
Collaborator Contribution Investigation of cardiac function
Impact Paper in Press on Opa1 in cardiac function
Start Year 2008
 
Title Opa1 and Opa3 mutant mouse lines generated 
Description New mutant mouse lines for research 
IP Reference  
Protection Protection not required
Year Protection Granted
Licensed Yes
Impact Collaborations established and logged herein
 
Title UK Genetic Testing Network approved OPA1 genetic test 
Description As a result of research based genetic screening of the human OPA1 gene in patients with dominant optic atrophy I worked with the All wales genetic Testing Service in the NHS to develop an NHS test for patients. This was approved by the UK Genetic Testing Network and is therefore recommended for patients and available as a fee for service test in the NHS. 
Type Diagnostic Tool - Non-Imaging
Current Stage Of Development Wide-scale adoption
Year Development Stage Completed 2008
Development Status Under active development/distribution
Impact The test has been taken up by clinicians throughout the UK. 
 
Description Inherited eye disease patient day 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact The whole day events have now been held twice and have become an annual event. Patients, carers, third sector, Welsh Government and professionals have all taken part in an information and networking opportunity for patients. The aim is to raise awareness, give support and raise the profile of rare inherited eye diseases.
Year(s) Of Engagement Activity 2015,2016
 
Description PI organised a teaching module for RNIB Wales 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Health professionals
Results and Impact PI put together a half day seminar and teaching symposium to outline the role of inherited optic atrophy in inherited childhood blindness

Good feedback from delegates
Year(s) Of Engagement Activity 2006
 
Description Patient and volunteer Information Letter 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Participants in your research and patient groups
Results and Impact The PI wrote a newsletter to all study participants outlining our research progress and success.

Obtained a number of very positive feedback comments.
Year(s) Of Engagement Activity 2007,2008