The TSA has now funded over £2.5 million of research on TSC since 1980 and always welcomes donations for research from Trusts, companies and Individuals. The TSA funded research that found both the TSC1 and TSC2 genes and is now supporting work towards DNA diagnostic tests. The TSA has also funded research into how TSC affects people physically and into the autism and developmental problems associated with the condition.

For recent medical and research news and articles, please refer to our medical and research article archive.

Research strategy

The goals of the previous Research Strategy have been achieved, i.e. identifying and cloning the TSC genes, leading to accurate genetic tests and the beginning of the understanding of the molecular mechanisms of TSC.

In addition much accurate information on the psychological aspects of TSC has been collected. The TSA believes that the most value to members lies in research to treat the various physical and psychological problems associated with the condition. The more costly basic research on molecular mechanisms should seek sponsorship from the relevant large charities such as Cancer Research UK, or the Wellcome Trust. Lobbying to achieve this will be needed. Words such as lesions, tubers, facial rash, etc. should be replaced by the more relevant term of ‘tumour’.

The TSA strategy for research for the next five years should be:

• to increase research funding,
• to promote research into appropriate and effective treatments,
• to further the understanding of the molecular mechanisms of TSC through stimulating funding by non-TSA money.
• to increase awareness in the scientific community of research findings e.g. by hosting research meetings and workshops and issuing bulletins on recent research.

This should be achieved by:

• offering guidance and encouragement for relevant research,
• offering pump priming funding and some core funding for research into treatments,
• helping researchers access grants from external sources for further research into genetics and molecular mechanisms.

Research is one of the three major aims in the constitution of the TSA. Results of membership surveys consistently show that it is regarded as the most important activity by the majority of members who know that many of the problems they face would disappear if effective treatments for the condition were found. These treatments will only be found through research. And because TSC is a rare condition it is difficult to attract significant outside funding. For these reasons the minimum annual budget for TSC research should be one third of the ordinary annual income of the TSA. In addition, there should be no upper limit to research funded from outside grants. These should be regarded as restricted funds and not as ordinary annual income since the large sums involved produce an apparent sudden drop in income whenever a grant finishes.

Priority areas for research

Outlined below are the areas the TSA believes are priorities for research over the next three years to produce the effective treatments which often arise from understanding the molecular mechanisms. It is not possible to be categorical about which areas should receive funding first, since such decisions often depend upon opportunistic factors. These include recent developments in research, the interest and expertise of individual research groups, and which areas are most likely to be funded by agencies outside the TSA. Nevertheless the TSA’s role will be to stimulate interest and pump-prime with grants those areas that it feels relevant to the treatment of TSC or that will provide the missing building blocks in understanding of the disease.

Epilepsy

• The effects of AEDs in TSC on behaviour and cognition, not just on epilepsy control, to maximise their effectiveness and minimise side-effects
• The application of better ways of brain imaging for more severely disabled people.
• The relationship between sleep disturbance and epilepsy in TSC.
• Non- AED treatment for epilepsy in TSC - brain surgery, VNS, ketogenic diet.
• Changing factors for epilepsy in adolescence and adulthood in TSC individuals.
• The relationships of the number, size and distribution of the cortical lesions to epilepsy type and severity.
• The relationship between molecular mechanisms in TSC and epilepsy to produce epilepsy treatment specific to the condition.
• The effect of drug resistance in epilepsy in TSC

Cognition and behaviour

• The effectiveness of early assessment and intervention on cognitive development and behavioural management.
• Changes from childhood in behavioural and cognitive deficits in adolescents with TSC in association with any changes in brain structure shown on imaging.
• Neuropsychological and psychiatric problems in adults with TSC.
• The relationship between behavioural problems in TSC, such as aggression, ADHD and autism spectrum disorders (ASD) and the type and severity of epilepsy.
• Language, memory and retrieval of information in people less affected by TSC.
• Attention and vigilance deficits and their relationship to specific and global cognitive function.
• A study of number, size and distribution of cortical lesions in relation to prognosis of cognitive development and more complex behaviour problems.

Physical problems

• Study of physical problems that develop in later adulthood - 50+ and older.
• Natural history of TSC from early childhood to adulthood through follow-up of 1980-81 cohort.
• Natural history of kidney problems (TSC Registry of Renal Problems) to enable predictive factors for AML growth and haemorrhages leading to earlier intervention.
• Treatments for kidney AMLs and lung cysts derived from increased knowledge of cell and molecular biology of TSC e.g. Rapamycin and homologues.
• Blood pressure monitoring for kidney problems.
• Predictive factors for poor outcome in polycystic kidney disease.
• Predictive factors for early identification and treatment of enlarging brain tumours (SEGAs).
• Peri and post-operative outcomes to surgery for SEGAs.
  Intital grants for promising molecular/cell biology research directly relevant to the treatment of TSC
• Grants given should include a dissemination plan and time included for writing up the research.
• Applications should always include a short lay summary of the proposal as well as a more technical outline.

Research grant applications

Research grants are available from the Tuberous Sclerosis Association. As funds are limited, these grants are only given for research directly concerned with the rare genetic condition Tuberous Sclerosis Complex. It is therefore advisable to discuss any proposals first with the Head of Research as this can save valuable time.

The application form and the terms of the grants are attached. Decisions are made at the TSA Committee meetings held in January, May and September. You can download the research grant application form [RTF format].