ATSS_ReachOut_April17_FINAL

Information
Research Highlights from TSC
International Conference in Lisbon
Congratulations to the Associação de Esclerose Tuberosa
em Portugal for hosting an inspiring and collaborative
meeting between researchers, clinicians, advocates, people with
TSC and their families. Clare Stuart, TSA’s General Manager
and co-chair of TSC International, attended the meeting and
was the only Australian representative.
This article summarises some of the research themes explored
at the conference. For more information about a particular
research project please contact us. We can direct you to further
information or introduce you to the researchers involved. Like all
the TSC information we provide, this article does not constitute
medical advice and you should not take any action before
speaking with your health care professional.
Understanding the TSC Brain
Several projects were presented that increased our knowledge in
this area, including the genetics that drives the development of
TSC tumours and tubers in the brain, how seizures and epilepsy
arise in a TSC brain and new technologies that can be used to
better visualise the TSC brain.
Other talks at the conference identified the challenges and
opportunities posed by new and emerging imaging technologies.
There was also emphasis on the importance of the TSC
community working with radiologists and starting to consider
imaging as a consultation, not just a commodity.
Early detection and prevention of autism
Up to 50% of people with TSC will develop autism and, for many,
this has a significant impact on their quality of life. However,
research on mice with TSC suggests that there may be a role for
very early intervention to prevent autism. Other work suggested
that there may be later opportunities for intervention for social
aspects of autism, but less so for features of autism related to
repetition and inflexibility. Like all research in mice models,
there is a lot of work to do to test this idea before we know if it is
useful in people.
In other aspects of TAND (*), researchers described the
“overwhelming uniqueness” they have discovered and the work
they are doing to identify clusters of TAND-related symptoms and
how this could be used to better target mental health interventions.
Advances in genetics
Further work has been done to understand the group of people
with definite TSC who do not seem to have a gene change on
either the TSC1 or TSC2 gene. Studies continue to show that a
large proportion of this group are eventually found to be mosaic,
meaning that only some of their cells have the TSC1 or TSC2 gene
change. For others, researchers have found that newer, “deeper”,
genetic sequencing technologies may be able to identify gene
changes in this group.
Work on non-invasive pre-natal testing continues and
it is reasonable to expect this technology to be available for
prospective parents with TSC within the next ten years.
TSC International representatives,
including Clare Stuart from TSA,
at the conference
The path to new treatments, improved care and a
better quality of life for people with TSC
The results of the EXIST-3 clinical trial of using mTOR inhibitor
medicine to treat medication-resistant epilepsy were discussed.
The trial results suggest that a relatively high dose of mTOR
inhibitors is required to have a noticeable effect on seizures for
most people and that more work needs to be done to identify
subgroups of people with TSC who have the most to gain from
this potential new epilepsy treatment.
A recurrent theme of the meeting was improving care for
people with TSC throughout the world. TSC International hosted
a specific workshop on this topic with representatives from
diverse countries sharing experiences and challenges. There was
wide recognition that, as a global TSC community, we have some
responsibility for closing the gap between the health care available
to those in high income countries with access to TSC centres of
excellence and those who do not have these resources.
Basic science work, the hardest to explain in a brief article like
this one, continues to improve our understanding of how cells
with TSC behave and why they cause the signs and symptoms of
TSC throughout the body. Several exciting projects are in progress
and we can be optimistic that TSC research will continue to
push all of us forward to improve the lives of people with TSC
throughout the world.
* TAND stands for TSC Associated Neuropsychiatric Disorders
and includes behaviour, cognition and psychiatric aspects of TSC
such as sleep difficulties, learning difficulties and autism.
21