CHECT projects under way

Project Title: To study the RNAi mediated HMGA2 gene expression profile of y79 cells

Project Lead: Prof Krishnakumar from the Sankara Nethralaya Centre in India and Mr Ashwin Reddy, Consultant Paediatric Ophthalmologist with interest in Retinoblastoma at Royal London Hospital

Funding period: 3 years

Project Summary:
A study of HMGA2 gene expression in y79 cells using a virus to block/silence/de-regulate the expression of this important gene which might be implicated in aggressive Rb tumours.

Project Status: In progress
Start date: November 2009

 

Project Title: Identification of molecular tools to guide treatment decisions in retinoblastoma

Project Lead: Dr Carmel McConville at the CRUK Institute for Cancer Studies at the University of Birmingham.
Funding period: 1 year

This is a one year pilot project being undertaken by Dr Carmel McConville.
The purpose of this research is to use gene expression profiling in order to identify genetic factors associated with tumour behaviour and disease progression which could be used to inform treatment decisions. If results are promising, funding for a further three year study will be sought.

Project Status: In progress
Start date: November 2009

 

Project Title: Audit of clinical genetic and molecular genetic information and reproductive issues known to retinoblastoma families.

Project Lead: Dr Trevor Cole, Consultant Clinical Geneticist, Birmingham Women's Hospital
Funding Award: £69051
Funding period: 2 years

Project Summary:
The differing and complex genetics underlying the majority of unilateral and bilateral retinoblastoma means that many families have to be given genetic counselling advice on an ongoing and rather piecemeal basis.

We therefore suggest that we need to work with families currently undergoing treatment and, families discharged from follow up, to see if further genetic counselling input is necessarily to ensure families have the best information we are currently able to provide. We would suggest that this is important baseline data and would facilitate periodic review or audit that is likely to be necessary until all families are able to have a "definitive genetic explanation" to all at risk family members. Evidence on the practical benefits perceived by patients, in addition to the theoretical medical and cost benefits reported by Richter et al 2003, from molecular studies could then be assessed. This study would be timely as it could collect data prospectively from families yet to have definitive molecular answers and subsequent to these answers becoming available.

Project Status: In progress
Start date: October 2008

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