International Tuberous Sclerosis Complex Research Conference 2021:
A Vision for the Future
Working agenda
A Vision for the Future
Day 1: Thursday 17 June
| Time | Agenda item | Duration |
| 14:00 – 14:45 | Opening session
Welcome from Tuberous Sclerosis Association (TSA) CEO, Louise Fish Thank you from Sir David Suchet CBE Welcome and housekeeping from Conference Committee Co-Chairs, Chris Kingswood and Anna Jansen Genetics of TSC: Past, present and future Julian Sampson (Keynote speaker, sponsored by GW Pharma) |
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15 mins “ “ “ 30 mins |
| 14:45 – 15:55 | Session 1 – Early diagnosis
Session co-Chairs: Julian Sampson and Sam Amin A parents perspective on living with TSC Sanjay Sethi (community speaker) “ Early diagnosis and epilepsy prevention: Results of the EPISTOP study Sergiusz Jozwiak “ “ Recognition of lesser known skin findings for earlier diagnosis of tuberous sclerosis complex Thomas Darling “ “ |
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“ “10 mins “ 20 mins (+ 10 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) “ 8 mins (+ 2 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) |
| 15:55 – 16:10 | RF1: Five ‘rapid-fire’ poster presentations (pre-recorded and edited together)
mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus Robert Waltereit (#2) Quality of life in patients with tuberous sclerosis complex and epilepsy: estimating patient and caregiver health state utilities Jade Marshall (#13) Modeling tuberous sclerosis complex-sssociated renal angiomyolipoma tumors driven by TSC2 loss-of-heterozygosity using patient-derived hiPSCs Dario R. Lemos (#20) Extracellular vesicles secreted by TSC2-deficient cells shuttle altered cargo to fibroblasts of the tumour microenvironment to promote pro-tumoral signalling Muireann Ní Bhaoighill (#44) Tuberous sclerosis complex, a service review and plan for the future Eva Davis (#48) |
15 mins (5 x 3 mins each) |
| 16:10 – 16:25 | Break and poster viewing* | 15 mins |
| 16:25 – 17:15 | Session 2 – Early risk assessment
Session co-Chairs: Elizabeth Thiele & Anna Jansen “ My TSC journey Jennifer Flinn (community speaker) “ Genetics and pathogenesis of kidney angiomyolipoma: role of MITF and other TFs David Kwiatkowski “ Creating a genetic risk prediction model for epilepsy in TSC Laura S Farach “ |
“ “ “ 10 mins “ 20 mins (+ 10 mins Q&A) “ 8 mins (+2 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) |
| 17:15 – 17:30 | RF2: Five ‘rapid-fire’ poster presentations
Insight into TSC protein complex function from structural biology Daniel Kummel (#4) Targeting mTORC1 overactivation and Nrf2 inhibition to overcome ferroptosis resistance in cancer cells Tasmia Tahsin (#18) Quantification of healthcare, social care, and educational resource use in patients with tuberous sclerosis complex (TSC)-associated epilepsy: insights from a UK Delphi panel Linda Murphy (#55) Histamine signaling and metabolism identify biomarkers and therapies for lymphangioleiomyomatosis Carmen Herranz (#67) Tuberous sclerosis complex astrocytes affect neuronal synaptic balance through secreted factors Stephanie Dooves (#27) |
15 mins (5 x 3 mins each) |
| 17:30 – 17:55 | Break and poster viewing* | 25 mins |
| 17:55 – 18:55 | Industry symposium – sponsored by Nobel Pharma
Current and future options in the treatment of facial angiofibromas This session is restricted to healthcare professionals and prescribers only to comply with the ABPI Code of Practice. Poster networking session This parallel session is open to all delegates. |
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“ 60 mins |
Day 2: Friday 18 June
| Time | Agenda item | Duration |
| 14:00 – 14:05 | Welcome from Conference Committee Co-Chairs
Chris Kingswood and Anna Jansen |
5 5 mins |
| 14:05 – 15:15 | Session 3 – Research into new and available therapies
Session co-Chairs: Chris Kingswood & Nicholas Annear “ TSC, life as we know it Eva Schoeters (community speaker) “” Research into new and available therapies for TAND Petrus deVries “ “””” “ Long-term safety and efficacy of add-on cannabidiol (CBD) for treatment of seizures associated with tuberous sclerosis complex in an open-label extension trial (GWPCARE6) Elizabeth Thiele “ “ Bi-steric mTORC1-selective inhibitors demonstrate improved potency and efficacy in tumors caused by TSC Heng Du “ Prenatal sirolimus treatment for intrauterine rhabdomyomas in Tuberous Sclerosis Daniel Ebrahimi-Fakhari (ECR) |
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v “ “10 mins “ 20 mins (+ 10 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) “” “ 8 mins (+ 2 mins Q&A) |
| 15:15 – 15:30 | RF3: Five ‘rapid-fire’ poster presentations
The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial Sam Amin (#9) Efficacy of Add-on Cannabidiol (CBD) treatment in patients with tuberous sclerosis complex and a history of infantile spasms: Post hoc analysis of phase 3 trial GWPCARE6 Farhad Sahebkar (#26) Oligomerization of TSC1 and membrane binding via phosphatidylinositol-phosphates Katharina Fitzian (#35) Kidney angiomyolipomas are defined by a unique transcriptional profile and H3K27ac chromatin state Krinio Giannikou (#43) DGKA-dependent macropinocytosis supports tumorigenesis in tuberous sclerosis complex Charilaos (Harry) Filippakis (#56) |
15 mins |
| 15:30 – 15:50 | Break and poster viewing* | 20 mins |
| 15:50 – 16:40 | Session 4 – Basic science and pre-clinical work (A)
Session co-Chairs: Elizabeth Henske & Elaine Dunlop “ New therapeutic strategies for eliminating TSC lesions Brendan Manning “” “ “ Drug inhibition of reduction-oxidation factor 1-apurinic/apyrimidinic endonuclease 1 restores the hypoxic-driven disease state of Tuberous Sclerosis Complex Jesse Champion “ |
“ “ “ 20 mins (+ 10 mins Q&A) “ “ 8 mins (+2 mins Q&A) “ “ “ 8 mins (+ 2 mins Q&A) |
| 16:40 – 17:30 | Session 5 – Basic science and pre-clinical work (B)
Session co-Chairs: Simon Johnson & Harry Filippakis “ TFEB and lysosomes: roles in TSC pathogenesis and therapy Elizabeth Henske “ “ |
“ “ “ 20 mins (+ 10 mins Q&A) “ “ 8 mins (+2 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) |
| 17:30 – 17:45 | RF4: Five ‘rapid-fire’ poster presentations
The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from a nationwide registry F.V.M. Mulder (#12) Single cell analysis of tuberous sclerosis complex (TSC) reveals a stem-like tumor state linked to immune suppression Yan Tang (#21) Tuberous sclerosis complex and cerebral aneurysms: the challenge of early detection Mehdi Chihi (#32) Millions of incipient angiofibromas in TSC facial skin Katarzyna Klonowska (#53) TSC-related phenotypes in C57BL/6J and DBA/2J mice with germline Tsc1 haploinsufficiency Montana Kay Lara (#62) |
15 mins (3 x 5 mins each) |
| 17:45 – 18:00 | Break and poster viewing* | 15 mins |
| 18:00 – 19:00 | Industry symposium – sponsored by GW Pharma
Cannabinoids in the management of TSC-associated seizures This session is restricted to healthcare professionals and prescribers only to comply with the ABPI Code of Practice. Poster networking session This parallel session is open to all delegates. |
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“ 60 mins |
Day 3: Saturday 19 June
| Time | Agenda item | Duration |
| 14:00 – 14:05 | Welcome from Conference Committee Co-Chairs
Chris Kingswood and Anna Jansen |
5 5 mins |
| 14:05 – 15:25 | Session 6 – Prevention
Session co-Chairs: Petrus deVries & Nicholas Annear The ups and downs of life with TSC Vicky Whittemore (community speaker) “ Tuberous sclerosis complex: Is prevention possible? Hope Northrup “ “ Understanding the landscape of Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disorders (TAND) research: A comprehensive scoping review Stacey Bissell, Stephanie Vanclooster “ Evolution of the TS Alliance TSC biosample repository Gabrielle V Rushing “” Febrile seizures and febrile status epilepticus in tuberous sclerosis complex: A retrospective analysis Davide Caputo “ Exploring Sleep in Neurodevelopmental disorders through Online and Remote Evaluation (e-SNORE): Pilot and feasibility study in tuberous sclerosis complex Stacey Bissell (ECR) |
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“ “10 mins “ 20 mins (+ 10 mins Q&A) “ 8 mins (+ 2 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) “ 8 mins (+ 2 mins Q&A) “ “ 8 mins (+ 2 mins Q&A) |
| 15:25 – 15:45 | Break and poster viewing* | 15 mins |
| 15:45 – 16:25 | Session 7 – Social research
Session co-Chairs: Patrick Bolton & Charlotte Tye “ Towards socially responsive research in TSC Anna Jansen “ Investigating the impact of the pandemic on wellbeing in families of children with rare disorders: The CoIN Study Jessica Martin (ECR) |
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“ “ “20 mins (+ 10 ins QA&) “ “ 8 mins (+ 2 mins Q&A) |
| 15:50 – 16:40 | RF5: 5 ‘rapid-fire’ poster presentations
Pancreatic Neuroendocrine Tumors (PNETs) and utility of mTOR inhibitors as a treatment option Kate Mowery (#17) Spectrum of germline and somatic mitochondrial DNA variants in tuberous sclerosis complex Krinio Giannikou (#42) Mapping the time course of mTORC1-driven tumorigenesis in the developing brain Laura Geben (#61) mTOR hyperactivity limits protein synthesis and reduces inhibitory synapse formation Samuel H. Barth (#40) MHPA: a novel strategy enabling detection of extreme low-level mosaicism in TSC Katarzyna Klonowska (#52) |
15 mins (5 x 3 mins each) |
| 16:40 – 16:55 | Break and poster viewing* |
15 mins |
| 16:55 – 18:25 | Session 8: A Vision for the Future
Session co-Chairs: Steve Roberds & Angela Peron “ Gene therapy for tuberous sclerosis in mouse models Xandra Breakefield “ TSC renal cystic disease: Pathophysiology and treatment John Bissler Changing the paradigm: Developing disease-modifying and preventative treatments for TSC Darcy Krueger “ Panel session |
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“ “ 20 mins (+ 10 ins QA&) “ 15 mins (+ 5 mins Q&A) 15 mins (+ 5 mins Q&A) “ 20 mins |
| 18:25 – 18:55 | Special session
TANDem – an update on year 2 Liesbeth De Waele |
20 mins (+ 10 mins Q&A) |
| 18:55 – 19:00 | Thank you and close. |
5 mins |
*all posters will be available to view throughout the duration of the conference