On going research:
Some years ago (between 1998 -2004) the AT families known at that time were asked to reply to a questionnaire about cancers in the family, in order to try and derive an estimate of the cancer risks of AT family members. This work was completed and published and researchers Malcolm Taylor and Doug Easton came to talk to us at our Family Days about the results.
Malcolm and Doug would now like to update the cancer information available on the 1160 relatives who were studied at that time. This does not require those involved to do anything further, in terms of providing family information. However, if you may have been one of the people included in the original study, they ask if you would click on the links below and read the two short statements, called ‘Patient notification and Dissent’ and ‘The acceptability of using confidential patient information without consent’. They should both be self-explanatory.
The AT Society thinks this is a very important study into a topic which it is of great importance to the families of people living with AT, and we very much hope that you too will support it.
If you have any questions please use the contact details contained on the links above.
New research project (supported by the AT Society)
Title: CoIN Study: Covid-19 impact on wellbeing in families of children with rare neurogenetic disorders
Principle Investigator: Dr. Charlotte Tye (King’s College London)
Research Assistant: Abigail Runicles (King’s College London)
Are you the parent of a child aged 0-16 with AT or other rare genetic and/or neurodevelopmental disorder?
Can you help us understand the impact of Covid-19 on the wellbeing of families of children with rare genetic and neurodevelopmental disorders?
If you are, we invite you to take part in a regular online survey being led by King’s College London and involving a UK-wide team of researchers (CoIN Study).
The CoIN Study will track changes in wellbeing during and after the pandemic in order to understand the specific challenges facing families of children with rare disorders. Your responses will be rapidly fed back to The AT Society, and used to identify and provide better ways of supporting you both now and in the future.
The survey will take up to 40 minutes to complete the first time you do it and about 15 minutes to complete thereafter. We will ask you to complete the survey once per month until children are back in their usual education.
Please click here for more information: www.coinstudy.co.uk
Online research workshops
During the lock-down, the AT Society, in partnership with the A-T Children’s Project is organising a number of online workshops, bringing together international experts to discuss major issues in AT research. To read more about this, click on the image.
Projects we are funding
Title: Functional and metabolomic analysis of iPSC-derived Purkinje neurons from A-T patients
Length: 1 year from 1 April 2018
Summary: This project aims to take induced pluripotent stem cells, developed from the cells of people with A-T and turn them into Purkinje cells, in the laboratory. Once they have done this, they will carry out a series of analyses of the metabolic processes at work in the cells, to determine what factors and alterations make these cells hypersensitive to the absence of ATM.
Support: £80,000 The A-T Society is funding the whole of this project.
Nottingham University Hospitals NHS Trust
Title: Natural History of A-T
Length: 3 years from April 2018
Summary: Over the years, the A-T clinics at Nottingham and Papworth have acquired an unparalleled amount of clinical data on people with A-T. This project will use this data to produce a natural history of A-T, that is a formal and evidenced description of the entire course of the condition.
Support: Currently £12,125 for equipment and statistical support. The rest of the first year of the project is already funded. The A-T Society aims to fund the second and third year in partnership with other funders.
University of Nottingham
Title: Non-viral gene delivery of ATM
Length: 3 months (as part of a longer-term project)
Summary: Currently, viral vectors for gene therapy do not have sufficient capacity to carry the very large ATM gene. This team has developed a non-viral vector for cystic-fibrosis that they believe could effectively deliver the ATM gene to the brain. This study will test the ability of the vector to correct the molecular deficiency in cells from people with A-T.
Support: £10,600 The A-T Society is funding a 3-month proof of concept study
University of Newcastle
Title: A survey of the information needs and research priorities of people and families with Ataxia-Telangiectasia
Length: 3 months
Support: Practical support in drafting, circulating and collecting survey and encouraging participation
Summary: A survey of the information people and families with ataxia-telangiectasia feel they need on Cancer in A-T and which areas they see as priorities for research.