Research Update – December 2017

Research Update – December 2017

With several programmes finishing during 2017 our research portfolio is much reduced, and we are now only funding three active projects. This is largely due to our current financial constraints and we hope to be in a position to award further grants in due course (see below).

The project entitled “Neurodevelopmental Outcomes in RSS”, which forms part of the larger SOLID programme, is progressing well and many of you will have heard Dr Renuka Dias talking about the research at the last convention. You will also see an update from Renuka elsewhere in this newsletter.
Dr Megan Freeth and Louisa Robinson at Sheffield University have just started their project entitled “Characteristics of Autistic Spectrum Disorder in RSS” and plan to start testing early in the new year. I appreciate that our RSS members, in particular, have been asked to take part in many research studies in recent years but participants in this study will receive individual feedback which will hopefully be an incentive to take part in this exciting new research.

In 2012, the CGF awarded a grant of £20k to support a project investigating different drug treatments for children affected by thyrotoxicosis. This drug trial, led by Dr Tim Cheetham at the Royal Victoria Infirmary in Newcastle, is still ongoing and we expect to hear the results in another year or two.

At the recent trustees’ meeting we agreed to consider a contribution of £15k to support a project at Manchester University which is investigating the long term medical issues experienced by SGA babies. The grant will enable Dr Reena Perchard to complete a PhD degree under the direction of Professor Peter Clayton and is conditional on the additional funding being obtained from other sources.
The trustees are keen to change the way in which grants are awarded and move to a system in which the CGF asks research groups to submit proposals to address specific issues that have been identified by our members. The exact details of the new scheme have yet to be confirmed but will hopefully have been agreed in time for the next newsletter. However, it is likely that we will announce research awards on an annual or biennial basis and that a budget will be allocated depending on the financial situation of the charity at that time. If the incredible fund-raising effort from CGF members over the last few years can be sustained, we will be able to maintain a valuable research portfolio.

As well as funding research programmes ourselves, we are often asked to make members aware of other relevant projects that have attracted funding from elsewhere. Two current projects in which you may wish to consider participating are an investigation of the cognitive profile, behaviour and autistic traits in Tatton-Brown Rahman and Weaver Syndromes being carried out by Dr Chloe Lane and Dr Megan Freeth at Sheffield University and an investigation of the behavioural aspects and mental health of those with Sotos Syndrome being led by Dr Alice Welham at Birmingham University.

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