Research projects we support

Projects in Cambridge

The A-T Society in partnership with the Masonic Samaritan Fund has agreed a second year's funding to the ground-breaking Synthetic viability project at the Steve Jackson Laboratory in Cambridge.

We are also working with Dr Serena Nik Zainal at the Sanger Institute in Cambridge to recruit patients to the INSIGNIA project which she is leading. This project will produce induced pluripotent stem cell lines from patients with A-T and closely related conditions, such as AT-Like Disorder and AOA1, which will be available to other researchers and projects. It will also sequence the genomes of each patient, data which again will be available for other research.

We also gave a grant to support a research project by Dr Gemma Cummins at the University of Cambridge looking at the psychiatric and cognitive effects of A-T on adults with the condition

International projects

We are working very closely with Erydel, the company responsible for the proposed international clinical trial of the steroid dexamethasone, delivered through infusion into the patients own red blood cells (the technique is called Erydex).

We are leading an international programme to establish a European patient registry, designed as a research tool to increase our knowledge of AT.

In partnership with Action for A-T and Sparks,  we are funding three very interesting projects in Spain and Italy.

We are now in the second year of a Gene therapy project at the University of Granada, led by Prof Ignacio Molina.

We are funding a project led by Prof Claudio Pignata at the University of Naples to assess whether it is the impact on the lysosomal storage function in the cell, which is critical in causing neurodegeneration in A-T and whether it is this function which is restored by steroids.

We are funding a project led by Prof Luciana Chessa in Rome and Prof Mauro Magnani in Urbino to better understand why steroids seem to have a positive effect on the neurological symptoms of AT.

Other UK Projects

The  CATNAP Project, led by Dr Rob Dineen at the University of Nottingham will use Magnetic Resonance Imaging (MRI) to look for bio-markers and better understand the processes going on in the cerbellum and brains of people with A-T. The Society was responsible for establishing the project and is providing active assistance in recruiting and supporting participants. The project is funded by the A-T Children's Project and Action for A-T.

We are working with Dr William Whitehouse of Nottingham University on the validation of the A-T NEST  (A-T Neurological Evaluation Scale Toolkit).  We have been assisting with the co-ordination of this international project and helped organise a trial filming day.

In the pipeline

We are working with researchers to develop or refine potential applications for a number of additional projects, including

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  • A study of insulin resistance in carriers of the A-T gene. This it at the very earliest stages still and is unlikely to be finalised before 2015.

Promoting co-operation

We are contributing to the costs of the ATW 2015 international conference in Beijng in October 2015

We sponsored and supported the organisers of the A-T Clinical Research Conference in November 2014 in Nijmegen, which we had commissioned, in partnership with the A-T Children's Project,  to follow on from the 2012 conference in Cambridge. Our chief executive William Davis chaired the final morning of the conference and is now in negotiation with clinicians in a number of other countries about hosting the next event in 2016.

In July 2013 Society facilitated a meeting between clinicians from 7 different European countries, to discuss how they could work more closely together in future and exchange information and experiences better.

 In June 2012 we organised a highly successful International Clinical Research Conference in Cambridge. This brought together leading researchers from around the globe, both from within and beyond the world of A-T, to assess the possibilities offered by new techniques and discoveries and identify opportunities for future co-operation.

In 2011 an A-T Society initiative led to the establishment of the International Clinical Research Network to link together all international researchers in the field and improve communication and the coordination of research efforts and we work with the A-T Children's Project to send out regular bulletins to members.

 

Prof Steve Jackson

Prof. Steve Jackson

 Serena Nik-Zainal

 Dr Serena Nik-Zainal

 

  Picture of Professor Molina

Prof. Ignacio Molina

    

 CATNAP project logo

Logo of the CATNAP project