Preliminary program

VAC 2025 FINAL program

VAC2025 Program

Venue: MOA Hotel (Stephanstraße 41, 10559 Berlin)

Phone Number: +49 30 39 40430

Day 1 │Tuesday 11 February
10.00	Registration
12.00 – 13.00	Lunch
OPENING
13.00 – 13.15	Welcome Miikka Vikkula \| Chair of the scientific committee
13.15 – 13.20	European Patient Advocacy Groups (ePAGs) – Patient representatives’ message \| Petra Borgards
13.20 – 13.30	Patient testimonies 1 and 2. Living with visible condition (by HEVAS)
KEYNOTE LECTURE *Chair: Taija Mäkinen*
13.30 – 14.00	RNA sequencing: What have we learned and where next? Christer Betsholtz \| Department of Immunology, Genetics and Pathology (IGP), Uppsala University & Department of Medicine Huddinge (MedH), Karolinska Institutet, Sweden
14.00 – 14.10	Discussion
SESSION 1 VENOUS MALFORMATIONS *Chairs: Sandra Castillo & Taija Mäkinen*
14.10 – 14.20	Patient testimony 3. VM (by HEVAS)
14.20 – 14.30	Short talk: Angiopoietin-TIE2 feedforward circuit promotes PIK3CA driven venous malformations. \| Marle Kraft
14.30 – 14.35	Discussion
14.35 – 14.45	Short talk: In-vivo investigation of the mechanisms driving venous malformation downstream of mutant TIE2 \| Lindsay Bischoff
14.45 – 14.50	Discussion
14.50 – 15.00	Short talk: Exploring the role of PIK3CA variants in vascular malformations: A combined molecular and experimental modeling strategy \| Ana Angulo-Urarte
15.00 – 15.05	Discussion
15.05 – 15.25	New insights into PI3K signaling and the consequences of genetic PIK3CA activation Ralitsa Madsen \| School of Life Sciences, University of Dundee, Dundee, UK
15.25 – 15.35	Discussion
15.35 – 16.20	Coffee break
16.20 – 16.30	Short talk: RLY-2608, a first-in-class mutant-selective PI3Kα inhibitor, suppresses aberrant PI3Kα signaling and induces lesion regressions in an in vivo experimental model of PIK3CA-related vascular malformations. \| Fabien Llambi
16.30 – 16.35	Discussion
16.35 – 16.45	Short talk: New promising ways for sirolimus treatment: from continuous to intermittent administration of sirolimus in slow-flow vascular malformations \| Emmanuel Seront
16.45 – 16.50	Discussion
16.50 – 17.10	Venous malformations and identifying the patient at risk for thrombosis: what do we have? Maroeska te Loo \| Amalia Childrens Hospital Nijmegen and University Hospital Nijmegen, Radboudumc, Department of Pediatrics, The Netherlands
17.10 - 17.20	Discussion
SESSION 2 VASCULAR TUMORS / HEMANGIOMAS *Chairs: Joyce Bischoff & Lauri Eklund*
17.20 – 17.40	Transposon Mutagenesis Screen for Identification of Causative Genes in Vascular Malformations Luisa Iruela-Arispe \| Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, USA
17.40 – 17.50	Discussion
17.50 – 18.00	Short talk: Discovering a pioneering function for SOX18 in Kaposi's sarcoma, an endothelial cancer \| Krista Tuohinto
18.00 – 18.05	Discussion
18.05 – 18.15	Short talk: Identification of a de novo activating variant in GABPα in a patient with multiple vascular tumors of an unclassified entity\| Annegret Holm
18.15 – 18.20	Discussion

POSTER TEASERS *Chairs: Joyce Bischoff & Lauri Eklund*
18.20 – 18.40	Poster teasers (5 minutes each) Maya Alvarez-Harmon · An endothelial SOX18-mevalonate pathway axis in venous malformations: implications for repurposing of R(+) propranolol and statins Annegret Holm · An endothelial SOX18-mevalonate pathway axis enables novel targeted strategies for vascular anomalies Johanna Laakkonen · Breaking new ground – LAFs in PI3K-driven vascular malformations Emmanuel Seront · Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations
WELCOME DRINK
19.00 – 21.00	Networking drink

Day 2 │Wednesday 12 February
KEYNOTE LECTURE *Chair: Michael Potente*
8.45 – 9.15	PROTACs, a New Modality in Drug Discovery Enabling Highly Selective Target Degradation Stefan Knapp \| Goethe University Frankfurt, Frankfurt am Main, Germany Vascular single-cell
9.15 – 9.25	Discussion
SESSION 3 CAPILLARY MALFORMATIONS - STURGE WEBER SYNDROME *Chairs: Elisa Boscolo & Johanna Laakkonen*
9.25 – 9.35	Patient testimony 4: SWS (by CMTC)
9.35 – 9.55	Exploring the developmental biology of vascular and lymphatic anomalies in zebrafish Nathan Lawson \| Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Medical School, Worcester, USA
9.55 – 10.05	Discussion
10.05 – 10.15	(Replacement) Short talk: Endothelial Barrier Disruption: The Role of MAPK Signaling and Angiopoietin-2 inGNAQ p.R183Q Cells \| Sana Nasim
10.15 – 10.20	Discussion
10.20 – 11.00	Coffee break
11.00 – 11.20	Gaq[R183Q]-induced endothelial dynamics Stephan Huveneers \| Amsterdam UMC, University of Amsterdam, The Netherlands
11.20 – 11.30	Discussion
11.30 – 11.40	Short talk: Unraveling the mechanisms driving vascular anomalies and associated coagulopathies in a mouse model of hyperactive gnaq signaling \| Sandra Schrenk
11.40 – 11.45	Discussion
POSTER TEASERS *Chairs: Elisa Boscolo & Johanna Laakkonen*
11.45 – 12.10	Poster teasers (5 minutes each) Camilo Alarcón-Pérez · Description of Pathogenic Variants in Capillary Malformations of Lower Limbs with Overgrowth/Undergrowth: A Cohort Study from a Vascular Anomaly Unit Héloïse Poullet · Differential impact of EPHB4 likely pathogenic variants between lymphatic and CM-AVM2-related phenotypes Sabine Bailly · Identification and validation of a novel pathogenic variants in SMAD4 and GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia (HHT) Antonio Queiro Palou · Genetic and pharmacological targeting of mTORC1 in mouse models of arteriovenous malformation expose non-cell autonomous signalling in HHT Mana Alaviuon · Developing novel coagu-ligands for targeted thrombosis of brain arteriovenous malformations
12.10 – 13.10	Lunch
POSTER SESSION
13.10 – 15.10	Poster session 1 (authors of uneven numbered posters to present)
SESSION 4 COMPLEX LYMPHATIC ANOMALIES (CLA) AND LYMPHATIC MALFORMATIONS (LM) *Chairs: René Hägerling & Mike Dellinger*
15.10 – 15.20	Patient Testimony 5. Meet Becca and Libby (by LGDA)
15.20 – 15.40	Defining the mechanisms by which MDFIC variants cause Central Conducting Lymphatic Anomaly Natasha Harvey \| University of South Australia and SA Pathology, Adelaide, Australia
15.40 – 15.50	Discussion
15.50 – 16.00	Short talk: A single-cell atlas of normal and KRASG12D-malformed lymphatic vessels \| Michael Dellinger
16.00 – 16.05	Discussion
16.05 – 16.15	Short talk: Real-world experience using alpelisib in 26 vascular anomaly patients treated at a single institution \| Whitney Eng
16.15 – 16.20	Discussion
16.20 – 17.00	Coffee break
17.00 – 17.20	A zebrafish-based high-throughput screen identifies new candidate treatments for KLA Karina Yaniv \| Weizmann Institute of Science, Rehovot, Israel
17.20 – 17.30	Discussion
17.30 – 17.50	Integrative Diagnostic Imaging of Tissue Biopsies for Spatial Deep-phenotyping of Vascular Anomalies René Hägerling \| Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin and Berlin Institute of Health at Charité, Germany
17.50 – 18.00	Discussion
18.00 – 18.10	Short talk: Propranolol Treatment in Chylothorax: In Search of a Mechanism \| June Wu
18.10 – 18.15	Discussion
18.15 – 18.25	Short talk: Improving targeted therapies in complex lymphatic anomaly: two cases of synergistic efficacy of trametinib and sirolimus \| Emmanuel Seront
18.25 – 18.30	Discussion

Day 3 │Thursday 13 February
8.00 – 8.45	Meet the speakers (during breakfast) You can obtain a ticket from the registration table. Limited availability.
KEYNOTE LECTURE *Chair: Mariona Graupera*
9.00 – 9.30	The PI3-Kinase and AKT Pathway in Health and Disease: from Mechanisms to Therapeutics Alex Toker \| Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, USA
9.30 – 9.40	Discussion
SESSION 5 ARTERIO-VENOUS MALFORMATIONS *Chairs: Roxana Ola & Lars Jakobsson*
9.40 – 9.50	Testimony 6. Silvie-AVM (by AVMINORITY) & Coraline-AVM (by VASCAPA)
9.50 – 10.10	Integrative genomics of congenital cerebral fast-flow vascular lesions Kristopher T. Kahle \| Harvard Medical School & Massachusetts General Hospital, Boston, USA
10.10 – 10.20	Discussion
10.20 – 10.30	Short talk: Reversal of vein of Galen aneurysmal malformation by stimulation of flow-mediated vessel fusion \| Nicolas Baeyens
10.30 – 10.35	Discussion
10.35 – 10.45	Short talk: Formation of Human Arteriovenous Malformation Organoid and Its Characteristics \| Ho Yun Chung
10.45 - 10.50	Discussion
10.50 – 11.30	Coffee break
11.30 – 11.40	Short talk: Somatic KRAS variants in limb overgrowth with capillary malformation and fastflow, with or without slow-flow lesions: a distinct entity named KROS \| Julien Coulie
11.40 – 11.45	Discussion
11.45 – 12.05	Clinical use of medicines in fast-flow vascular malformations Laurence Boon \| Saint-Luc University Clinics Vascular Malformation Centre, Brussels, Belgium
12.05 – 12.15	Discussion

POSTER TEASERS *Chairs: Roxana Ola & Lars Jakobsson*
12.15 – 12.35	Poster teasers (5 minutes each) Janne de Jong · Piezo and TRPV mechanosensitive calcium channels cooperatively control transcriptional and morphological changes in Cerebral Cavernous Malformations Favour Onyeogaziri · Unraveling thrombomodulin heterogeneity in CCM using spatial transcriptomics Apeksha Shapeti · Force-driven mechanisms of wild-type cell recruitment in Cerebral Cavernous Malformations Konstantin Gängel · Intravital imaging of disease mechanisms in a mouse model of CCM skin lesions
12.35 – 13.25	Lunch
POSTER SESSION
13.25 – 15.25	Poster session 2 (authors of even numbered posters to present)
SESSION 6 HEREDITARY HAEMORRHAGIC TELANGIECTASIA (HHT) *Chairs: Sabine Bailly & Alexandre Dubrac*
15.25 – 15.45	New understanding in hereditary haemorrhagic telangiectasia Claire Shovlin \| Imperial College London, UK
15.45 – 15.55	Discussion
15.55 – 16.15	BMP9 signaling in safeguarding vascular integrity Roxana Ola \| Medical Faculty Mannheim, Heidelberg University, Germany
16.15 – 16.25	Discussion
16.25 – 17.00	Coffee break
17.00 – 17.10	Short talk: Exploring vascular heterogeneity in HHT2 brain AVM model \| Alexandre Dubrac
17.10 – 17.15	Discussion
17.15 – 17.35	BMP signalling in Hereditary Haemorrhagic Telangiectasia (HHT) Petra Knaus \| Freie Universität Berlin, Germany
17.35 – 17.45	Discussion
17.45 – 17.55	(Sponsored \| Diagonal Therapeutics) Short talk: Targeting the Root Cause of Disease with Bispecific Agonist Antibodies \| Andy Sullivan
17.55 – 18.00	Discussion
VAC NETWORKING DINNER WITH DANCE (Separate ticket)
19.00 – 01.00	VAC networking dinner with dance (separate ticket) Venue: Alte Turnhalle Berlin (Holteistraße 6-9, 10245 Berlin)

Day 4 │Friday 14 February
KEYNOTE LECTURE *Chair: Miikka Vikkula*
9.00 – 9.30	Phakomatosis Pigmentovascularis Veronica Kinsler \|Great Ormond St Hospital for Children and UCL GOS Institute of Child Health & Francis Crick Institute, London, UK
9.30 – 9.40	Discussion
SESSION 7 CEREBRAL CAVERNOUS MALFORMATIONS (CCM) *Chairs: Salim Seyfried & Konstantin Gängel*
9.40 – 10.00	Cavernoma profiling for biomarkers and potential treatments Peetra Magnusson \| Department of Immunology, Genetics and Pathology, Uppsala University, Sweden
10.00 – 10.10	Discussion
10.10 – 10.20	Short talk: Metabolic rewiring and resilience of Cerebral Cavernous Malformations \| Marco Castro
10.20 – 10.25	Discussion
10.25 – 10.35	Short talk: High Throughput Compound Screen Reveals a Novel Pharmacological Agent for the Treatment of Cerebral Cavernous Malformation \| Max Arce
10.35 – 10.40	Discussion
10.40 – 11.10	Coffee break
11.10 – 11.30	Germline and somatic mutations fuel the growth of vascular malformations Doug Marchuk \| Duke University School of Medicine, Durham, USA
11.30 - 11.40	Discussion
SESSION 8 VASCULAR ANOMALIES *Chairs: Mariona Graupera & Miikka Vikkula*
11.40 – 11.50	(Sponsored \| PTEN Research Foundation) Short talk: Somatic uniparental disomy of PTEN in endothelial cells causes congenital vascular malformations in PTEN Hamartoma Tumor Syndrome (PHTS) patients \| Sandra Castillo
11.50 – 11.55	Discussion
11.55 – 12.05	Short talk: A new and optimized coding system for vascular anomalies \| Friedrich Kapp
12.05 – 12.10	Discussion
12.10 – 12.20	Short talk: Dual non-allelic activating somatic oncogene variants in cutaneous vascular malformations \| Pierre Vabres
12.20 – 12.25	Discussion
12.25 – 12.35	Short talk: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA \| Nicole Revencu
12.35 – 12.40	Discussion
12.40 – 13.00	Awards & Closing \| Sabine Bailly, Mariona Graupera & Miikka Vikkula
13.00 – 14.00	Lunch