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International TSC Research Conference 2021 (ITSCRC2021): Community recap

The virtual International TSC Research Conference 2021 (ITSCRC2021) took place from 17-19 June 2021, with around 250 TSC professionals from around the world meeting to discuss next steps and breakthroughs in the diagnosis, treatment and management of TSC.

This page, developed especially for the TSC community, gives an insight into ITSCRC2021 and some of the incredible TSC research that was on display. You can also read an overview of the event here.

Below, you can explore ITSCRC2021, watch videos from TSC researchers made exclusively for the community, and find out why now is such an exciting and hopeful time for TSC research.

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Presentations from researchers at ITSCRC2021

Sir David Suchet CBE welcome message

What’s next for TSC research events?

Have your questions about TSC research answered by the professionals

International TSC Research Conference 2021 sponsors

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About the International TSC Research Conference 2021

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The annual International TSC Research Conference is a very important event for the TSC research community, giving TSC researchers and clinicians from around the world the opportunity to share their latest discoveries and plan new collaborations. The TSA was delighted to host this year’s conference, which was held virtually for the first time.

The International TSC Research Conference 2021 focused on A Vision For the Future. This theme focused on exploring how academics, researchers and clinicians from across the globe are ambitiously driving new opportunities in TSC to advance their understanding, deliver innovation in clinical practice, and transform the lives of people living of people living with TSC and their families.

ITSCRC2021 talks and presentations focused on seven key areas of TSC across three days. These areas were chosen as they have been identified as the most important to people affected by TSC. This ensured that the research, networking and collaboration achieved through ITSCRC2021 would have as great an impact as possible on those who live with the impact of TSC globally. The seven key areas were:

  • Early diagnosis
  • Early risk assessment
  • Basic science and pre-clinical work
  • Prevention
  • New and available therapies
  • Social research
  • A vision for the future

Around 250 TSC professional delegates joined ITSCRC2021 from 22 countries, all whom are dedicating their lives to improving the lives of people affected by TSC. Attendees included:

• Healthcare professionals
• Academics
• Clinical and lab researchers
• Early career researchers (individuals on the start of their TSC research journey)
• Students, including PhD students and post-doctoral students
• TSC-focused organisations, including TS Alliance (USA) and e-TSC (Europe-wide)
• Pharmaceutical company executives

Click here to view the conference programme.

Scientific committee (SC)

Co-chairs: Dr Chris Kingswood, Professor Anna Jansen and Professor Andrew Tee.

Members: Dr Nicholas Annear, Professor Patrick Bolton, Professor Petrus de Vries, Dr Steve Roberds, Professor Simon Johnson, Professor Julian Sampson, Professor Elizabeth Thiele, Professor Elizabeth (Lisa) Henske and Dr Angela Peron.

Patient representatives: Mr Perry James and Mrs Corrine Swainger.

TSA representatives: Mrs Louise Fish, Dr Pooja Takhar and Miss Bethan Vaughan.

Early career researchers (ECR) committee

Co-chairs: Dr Charilaos (Harry) Filippakis, Dr Charlotte Tye, Dr Elaine Dunlop, Miss Fabienne Haslam, Dr Sam Amin and Dr Nicholas Annear.

TSA representatives: Dr Pooja Takhar and Miss Bethan Vaughan.

Internal organising committee (OC)

Co-chairs: Mrs Louise Fish (CEO) & Dr Pooja Takhar (Head of Research).

Members: Miss Bethan Vaughan (Research and Evidence Officer), Mr Luke Langlands (Head of Communications and Research), Mr Mike Dodson (Office Manager) and Mrs Mikaela Conlin-Hulme (Head of Fundraising).

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Sir David Suchet CBE welcome message

ITSCRC2021 opened with a welcome message from world famous actor and performer Sir David Suchet CBE. Sir David shared his thoughts and thanks on the incredible work of the TSC professional community to improve the lives of people affected by TSC.

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Have your questions about TSC research answered by the professionals

Ask your questions related to TSC research, whether about the research on show at ITSCRC2021 or in general, directly to TSC professionals themselves – Fill in the form below and we’ll feature your questions in a special Q&A recording developed with TSC professionals, and send you back the response directly

Fill in the below form, and your questions about TSC research will be answered by TSC professionals who have dedicated their professional life to improving the lives of the TSC community. We will also feature your question in a special upcoming TSC research Q&A recording!

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Presentations from researchers at ITSCRC2021

These videos and summaries have been made especially for the TSC community, by the global TSC professionals themselves who are dedicating their lives to discovering incredible breakthroughs and next steps in TSC diagnosis, treatment and management. Watch the videos and read the summaries to get a better understanding of what is currently happening in TSC research.

Towards socially responsible
research in TSC

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Dr Anna Jansen (Paediatric Neurology, UZ Brussel) presents her work on socially responsible research in TSC, and how important it is to involve individuals, families and carers affected by TSC at every stage of the research project.

Tuberous Sclerosis Complex:
Is prevention possible?

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Dr Hope Northrup (Department of Paediatrics, The University of Texas Medical School) discusses whether TSC prevention is possible, what this could look like, and recent breakthroughs in TSC biology.

Growth control by the TSC-mTOR pathway and therapeutic
strategies for TSC

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Dr Brendan Manning (Dept of Molecular Metabolism, Harvard University) presents his research on how the TSC m-TOR pathway controls cell growth, and how knowledge of this pathway has led to therapies for individuals living with TSC.

Research into new and available therapies for TSC-Associated Neuropsychiatric Disorders (TAND)

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Prof Petrus de Vries (Child and Adolescent Psychiatry, University of Cape Town) discusses his and his team’s work into TSC-Associated Neuropsychiatric Disorders (TAND), and the future of therapies for TAND.

TFEB regulates lysosomal biogenesis and cell proliferation in Tuberous Sclerosis Complex(TAND)

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Dr Lisa Henske discusses the importance in TSC of lysosomes. Lysosomes break down excess or worn-out parts of body cells and, if a cell is damaged beyond repair, they can help it to self-destruct in a process called programmed cell death, or apoptosis.

Early diagnosis and epilepsy prevention: Results of the
EPISTOP study

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Dr Sergiusz Jóźwiak presents research into early diagnosis and prevention of epilepsy in TSC, and the results of the EPISTOP study. This presentation was created for the TSC research professionals – a plain summary can be found by clicking here.

First steps in gene therapy for Tuberous Sclerosis Complex

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.Dr Xandra Breakefield (Geneticist, Massachusetts General Hospital) presents an exciting overview on her and her team’s work on gene therapy for TSC. The discussion including an overview of gene therapy as a whole, and insights into Dr Breakefield’s recent preclinical mouse model trials.

Genetics and pathogenesis of kidney angiomyolipona: MITF and other TFs

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Dr David Kwiatkowski (Harvard Medical School) discusses his latest research, including on mosaicism, a condition where different cells in the same person have different genetic makeup. This presentation was created for the TSC research professionals – a plain summary can be found by clicking here.

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What’s next for TSC research events?

The TSA is proud to be an organisation that continues to fund TSC research, so that breakthroughs in TSC can continue to be made. The TSA will continue to support TSC researchers and the professional community through direct funding, networking and engaging on what is of most importance to the TSC community.

Upcoming opportunity for the TSC research community to come together once more include the 2021 Virtual International TSC & LAM Research Conference (28 – 30 October 2021), the World TSC Research Conference 2022 and the next NHS TSC Clinics Education Meeting (2022).

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International TSC Research Conference 2021 sponsors

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For questions and comments about the International TSC Research Conference 2021, please email 2021conference@tuberous-sclerosis.org

Make a one off or regular  donation

£10 Can allow us to send a welcome pack to a family who has just received a life-changing TSC diagnosis, ensuring that they do not go through this time alone.

£25 Can help us develop materials that are included in our support services, flagship events or campaigns.

£50 Can provide laboratory equipment for a day’s research into the causes, symptoms, management or treatment of TSC.

To provide help for today and a cure for tomorrow