Molecular Pathology of MICRO Syndrome

Lead Research Organisation: University of Birmingham
Department Name: Clinical and Experimental 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

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Abdel-Salam GM (2007) Phenotypic variability in Micro syndrome: report of new cases. in Genetic counseling (Geneva, Switzerland)

 
Description Newlife- Project grant (1 year)- 2008
Amount £50,000 (GBP)
Organisation Newlife the Charity for Disabled Children 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2008 
End 06/2009
 
Description University of Birmingham, Scientific Projects Committee funding 2007
Amount £4,000 (GBP)
Organisation University of Birmingham 
Sector Academic/University
Country United Kingdom
Start 08/2007 
End 09/2007
 
Title Molecular testing for Micro syndrome 
Description In conjunction with the West Midlands Regional Genetics lab diagnostic testing for Micro syndrome has been established ( gene testing). 
Type Diagnostic Tool - Non-Imaging
Current Stage Of Development Small-scale adoption
Year Development Stage Completed 2006
Development Status Under active development/distribution
Impact Diagnostic and carrier testing available for families Prenatal diagnosis This has led to earlier diagnosis of Micro syndrome which has prevented several children having cataract surgery 
 
Description Patient support group meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Primary Audience Participants in your research and patient groups
Results and Impact First International Patient Support Meeting for Warburg Micro Sundrome

Second meeting organised for next year
Year(s) Of Engagement Activity 2011
 
Description Patients 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Primary Audience Participants in your research and patient groups
Results and Impact Seeing families with Micro syndrome participating in our research and discussing research findings- genetic counselling

Prenatal diagnosis and carrier testing offered to families- carried out by the West Midlands Regional Genetics Laboratory (NHS) as a service
Year(s) Of Engagement Activity 2006,2007,2008,2009