Neurofibromatosis European Meeting - Manchester
Abstract Submissions for this Conference are now closed.
20th Neurofibromatosis Meeting Manchester 10-11 October 2022
The 20th European Neurofibromatosis Meeting will be held in Manchester UK in October 2022 as a face to face conference. Whilst virtual conferences have led to a new way of working collaboratively internationally, these have somewhat stifled new collaborations as we have missed out on meeting socially together, as well as being able to talk face to face around posters. The Manchester conference will be organised as a face to face conference, however, if the pandemic continues to challenge us we will convert to a hybrid conference enabling those who are not ready for face to face meetings to have access to the full programme. This will be the 20th European Neurofibromatosis Conference representing over 30 years of NF conferences in Europe. The last conference was held in Rotterdam as a virtual conference in 2020 and previous conferences included the global Paris conference in 2018, the 2016 conference in Padua,2014 in Barcelona with the 15th European NF meeting being held in Istanbul. This 2022 conference will be the second time that Manchester has hosted the European NF Conference. Manchester has a world-leading reputation in neurofibromatosis research and is one of just two highly specialised services for NF1 in England, as well as the lead centre for the four centres NF2 highly specialised service set up in 2010. NF research began in the late 1980s in Manchester with Manchester producing the first management consensus guidelines at Old Trafford in 2004. Manchester has a rich history of clinical, epidemiological and molecular research on NF1, NF2 and Schwannomatosis. We trust that the Manchester conference will be an opportunity to bring us all together again to foster new research collaborations and to update ourselves on the most advanced research on neurofibromatosis. We look forward to welcoming you to Manchester.
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Neurofibromatosis European Meeting – Manchester
Organising Committee:
Dr. Grace Vassallo
Consultant Paediatric Neurologist and Clinical Lead HSS Complex NF1 Service, Manchester University NHS Foundation Trust
Prof. Gareth Evans
Professor in Medical genetics and Cancer Epidemiology, University of Manchester, UK
Mrs. Judith Eelloo
Lead Nurse HSS Complex NF1 Service, Manchester University NHS Foundation Trust
Prof. Gareth Evans
Professor in Medical genetics and Cancer Epidemiology, University of Manchester, UK
Prof Ian Kamaly
Professor in Paediatric Neurosurgery Manchester University Hospitals NHS Foundation Trust
Dr. Shruti Garg
Consultant in Child and Adolescent Psychiatry and Clinical Research Fellow at the Institute of Brain, Behaviour and Mental Health, University of Manchester, UK
Prof. Stavros Stivaros
Professor Paediatric Neuroradiology and Translational Imaging. University of Manchester.
Dr. Emma Burkitt-Wright
Consultant Clinical Geneticist St. Mary Genomic Centre for Medicine Manchester University Hospitals
Prof Michel Kalamarides
Professor and Director of Neurosurgery at Pitie-Salpetrire Hospital
Prof Scott Plotkin
Harvard Professor of Neurology
Prof R Ferner
Professor of Neurology Guy`s and St. Thomas` Foundation Trust and National Lead for the HSS Complex NF1 service in UK
Prof Marco Giovannini
Department of Head and Neck Surgery - David Geffen School of Medicine at University of California Los Angeles
Prof Eric Legius
Human Genetics at the University of Leuven Belgium
Prof Juha Petonen
Cancer Research Unit and institute of Biomedicine University of Turku Finland
Prof Ignacio Blanco
Professor Germans Trias Hospital Barcelona Spain
Prof Pierre Wolkenstein
Professor of Dermatology and Head of the Department of Dermatology Hopital Henri-Mondor, Paris, France
Prof J P Kilday
Professor of Neuroncology - Royal Manchester Children`s Hospital
Dr. R. Oostenbrink
General Paediatrician Erasmus MC Rotterdam
Dr. Eva Trevisson
Geneticist University of Padova Italy
Registration, Networking & Breakfast- Poster viewing opportunity
Introduction and Chairs Morning Session
Introduction and Chairs Morning Session
Keynote Lecture: 32 Years as an NF-ologist
History of NF in the UK
Dr. Sue Huson Clinical Geneticist & Meena Upadhyaya Distinguished Professor ( Hon) Division of Cancer and Genetics Cardiff University
A Phase I Study to Assess the Effect of Food on the Gastrointestinal (GI) Adverse Events (AEs) and Pharmacokinetics (PK) of Selumetinib in Adolescents with Neurofibromatosis Type 1 (NF1) Related Plexiform Neurofibromas (PN)
Prof David Viskochil-Department of Paediatrics, University of Utah, Salt, Lake City, Utah, USA
Clinical characteristics and management of patients with neurofibromatosis 1 and plexiform neurofibromas in Denmark: A nationwide study
Dr. Cecilie Ejerskov, Centre for Rare Diseases, Aarhus University Hospital, Denmark
Risk Factors in Pediatric Malignant Peripheral Nerve Sheath Tumours (MPNST): Results from the French Pediatric Oncology Society (SFCE) cohort.
Dr Jordane Chaix – Paediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Paris , France
Questions from Oral Presentations
Questions from Oral Presentations
Platform trials as an opportunity to identify new treatments in NF: identifying potential participating centres
Panel: Rianne Oostenbrink (chair) 1, Britt Dhaenens1, Jonas Leubner2, Eric Legius3
1 ErasmusMC- Sophia's Children's Hospital, Rotterdam, The Netherlands.
2 Charité-Universitätsmedizin Berlin, Berlin, Germany
3 Katholic University Leuven, Belgium
Challenges in NF2 novel therapy research, patient non-profit perspective.
POPLAR-NF2: A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants with Progressive NF2 Mutated Meningiomas
Glenn Morrison, Recurison Pharmaceutical Inc
Lunch and Networking Break. Poster Viewing and Special Interest Breakout Sessions
Chair afternoon: Prof G. Evans
Keynote Lecture: SPRED 1
Keynote Lecture: SPRED 1
Molecular Diagnosis of Mosaic Disease in the NF1 clinic
Dr. Emma Burkitt-Wright Consultant Clinical Geneticist HSS Complex NF1 service Manchester, Manchester University Hospital NHS Foundation Trust
Creation of the international NF Variant Curation Expert Panel to improve genetic testing of NF-SCHW genes
Elisabeth Castellanos, Clinical Genomics Research Group, Germans Trias & Pujol Research Institute (IGTP); Genetics Service, Clinical Laboratory North Metropolitan (LCMN), Germans Trias & Pujol University Hospital (HUGTiP), Can Ruti Campus, Badalona, Barcelona, Spain
Questions from Presentations
Phase 2a randomized, double blind, vehicle-controlled trial of NFX-179 Gel in Persons with Neurofibromatosis Type 1 with cutaneous neurofibromas.
Gerd Kochendoerfer, PhD
NFlection Therapueutics
How we image NF1
Dr. Calvin Soh Consultant Neuroradiologist HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust
Diagnostic and classification challenges of NF1-related gliomas
Questions from Case Presentations
Networking, Coffee Break and Poster Viewing Opportunity
Chairs- Dr Shruti Garg and Dr Emma Burkitt- Wright
Dr Shruti Garg – Consultant in Child and Adolescent Psychiatry, Manchester University NHS Foundation Trust and Clinical Research Fellow The Institute of Brain, Behaviour and Mental Health, University of Manchester
Dr Emma Burkitt-Wright, Consultant Clinical Geneticist HSS Complex NF1 service Manchester, Manchester University Hospital NHS Foundation Trust
Keynote Presentation: Epidemiology of NF1 and NF2 in Finland
Keynote Presentation: Epidemiology of NF1 and NF2 in Finland
Prevention of neurological signs and symptoms in children with NF1 and Brain stem gliomas-When is too little too late?
Generic Health-Related Quality of Life: Analysis of the Pediatric Quality of Life Inventory and Child Health Questionnaire in children with Neurofibromatosis Type 1
The course of intellectual development in children with Neurofibromatosis Type 1 based on longitudinal history study
Questions from Oral Presentations
Questions from Oral Presentations
Prevention of neurological signs and symptoms in children with NF1 and Brain stem gliomas-When is too little too late?
Dr. Grace Vassallo, Consultant Paediatric Neurologist and Clinical Lead HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust
Generic Health-Related Quality of Life: Analysis of the Pediatric Quality of Life Inventory and Child Health Questionnaire in children with Neurofibromatosis Type 1
Dr Britt Dhaenens, Department of General Paediatrics, ErasmusMC-Sophia’s Children’s Hospital, Rotterdam, The Netherlands
The course of intellectual development in children with Neurofibromatosis Type 1 based on longitudinal history study
A.M. (Sandra) van Abeelen, Kempenhaeghe, Center for Neurological Learning Disabilities, Netherlands
Opportunities from CTF Europe
Marco Nievo PhD, Chief Scientific Officer CTF Europe.
Chairs: Dr. Grace Vassallo and Prof Ian Kamaly-Asl
Dr Grace Vassallo Consultant Paediatric Neurologist and Clinical Lead HSS Complex NF1 Service
Manchester University NHS Foundation Trust
Professor Ian Kamaly-Asl
Professor of Paediatric Neurosurgery, Manchester University NHS Foundation Trust and University of Manchester
Keynote Lecture: Key neuroradiological features in Paediatric NF1 and NF2
Close of Event Day 1
Conference Meal, Awards and Entertainment
Conference Meal, Awards and Band Entertainment
Registration & Breakfast - Networking & Poster viewing
Registration & Breakfast - Networking & Poster viewing
Symposium: Call for an international consortium for the validation of the cNFSkindex questionnaire and other patient reported outcome measures in NF
Chairs: Dr Alexander Lee and Prof Ian Kamaly Asl
Dr Alexander Lee, Consultant Medical Oncologist, The Christie NHS Foundation Trust and HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust
Professor Ian Kamaly-Asl, Professor of Paediatric Neurosurgery, Manchester University NHS Foundation Trust and University of Manchester
Keynote Lecture: MPNST
Therapeutics discovery using synthetic lethal pharmacogenomic screens reveals vulnerability in MPNSTs harboring loss of function mutations in the gene encoding products of the polycomb repressive complex 2 (PRC2)
Overall survival amongst patients with neurofibromatosis type 1 and malignant peripheral nerve sheath tumor
Increased risk of endocrine morbidity in individuals with NF1: A Danish population-based cohort study
Questions from Oral Presentations
Keynote Lecture: Treatment of Ependymoma in NF2
Radiation treatment of benign tumours in NF2-schwannomatosis: a national study of 266 irradiated patients showing a significant increase in malignancy
Challenges of a giant thoracic meningocele with insights from the histology
Keynote Lecture: Animal Models in NF
Keynote Lecture: Animal Models in NF
Poster Presentations - Mezzanine floor - 11:30am - 13:00pm
Poster Presentations - Mezzanine floor
Breakout sessions - 11:30am - 13:00pm
Lunch and Networking
Parallel sessions: Oral Presentations NF1/NF2
NF1 - International Suite - Level 3 Chairs: Professor Ros Ferner Professor of Neurology and National Lead Guy's and St Thomas' Foundation Trust and HSS Complex NF1 Service in the UK Dr John Ealing Consultant Neurologist HSS Complex NF1 Service Manchester University NHS Foundation Trust and Northern Care Alliance NHS Trust |
NF2 - Senate Suite - Level 2 Chairs: Professor Andy King, Professor of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Hospital, Manchester, Co-Director, Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Group, University of Manchester, Manchester, UK, Dr Claire Forde, Consultant Clinical Geneticist HSS NF2 service Manchester, Manchester University Hospital NHS Foundation Trust |
Comparison of a STIR- and T1-weighted-based radiomics model to differentiate between plexiform neurofibromas and malignant peripheral nerve sheath tumors in neurofibromatosis type 1 Professor Scott Plotkin, Professor of Neurology, Harvard |
Multiple meningiomas as a criterion for the diagnosis of Neurofibromatosis Type 2 and other tumor predisposition syndromes Dr. Cathal Hannan, Neurosurgery ,Manchester Centre for Clinical Neurosciences |
Pregnancy and the risk for cancer among women with neurofibromatosis type 1 Roope Kallionpää, Senior Researcher Institute of Biomedicine, University of Turku, Finland |
Antisense oligonucleotides targeting exon 11 are able to partially rescue the Neurofibromatosis Type 2 phenotype in vitro. Núria Catasús, Postdoctoral researcher, Germans Trias i Pujol Research Institute (IGTP) |
Synthetic lethal screening identifies existing autophagy drugs with selective viability effects on Neurofibromatosis type-1 model systems Megan Stevens,Post-doctoral researcher,The Living Systems Institute, University of Exeter, Exeter, UK |
Reprogram the tumor microenvironment to prevent tumor-induced hearing loss and augments treatment efficacy in NF2 schwannoma rodent models Dr. Lei Xu, Assistant Professor,Massachusetts General Hospital |
Unbalancing the Ras/MAPK pathway and the cAMP/PKA pathway as a therapeutic strategy for cutaneous neurofibromas Dr. Eduard Serra, Group Leader, Germans Trias i Pujol Research Institute (IGTP)
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Susceptibility locus for sporadic vestibular schwannoma identified by genome-wide association analysis Dr Miriam Smith,Senior Lecturer in Cancer Genomics, The University of Manchester
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Aberrant GABAergic neuronal development leads to disrupted contactin expression in a human induced pluripotent stem cell model of Neurofibromatosis 1-Autism Julieta O'Flaherty, PhD student, Division of Cell Matrix Biology & Regenerative Medicine, University of Manchester
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The inflammatory and microvascular microenvironment in sporadic and neurofibromatosis type II related vestibular schwannoma (VS): a comparative imaging and pathology study Daniel Lewis, University of Manchester |
A case-only study in 1,333 neurofibromatosis type 1 patients to identify common genetic modifiers of cutaneous, subcutaneous, and plexiform neurofibromas Laurence Pacot, PhD student, PharmDAP-HP.Centre - Université Paris Cité |
"Immunogenic subtype" characterised by macrophages infiltration predominantly comprise meningiomas in neurofibromatosis type 2 patients Dr. Yu Teranishi , Assistant Professor, The University of Tokyo Hospital, Department of Neurosurgery |
Questions from Parallel Sessions
NF1 - Park Lane Suite - Level 4 | NF2 - Park Avenue Suite - Level 4 |
Questions | Questions |
Networking and Coffee Break
Chairs - Dr Grace Vassallo and Professor John-Paul Kilday
The ultimate in MDT work-Paediatric NF1 case.
Dr Vivien Tang Consultant Paediatric Radiologist HSS C HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust
Can Selumetinib delay the need for surgery in Neurofibromatosis Type 1 (NF1) with a Spinal Phenotype? - a multi-disciplinary approach
Questions from Case Study
Open questions from the Audience
Keynote Presentation: Medical Therapy in NF2
Symposium: Advancing treatments for NF1 related cognitive and behavioural difficulties
Overview and Introduction
Overview and Introduction
Insights from longitudinal studies of brain development in NF1 (EDEN study).
Cortical oscillatory activity in NF1
Early intervention studies in infancy
Novel interventions in NF1
Closing Address
Closing Address Prof Evans and Dr. G.Vassallo
Close of Event