08:00
Registration, Networking & Breakfast- Poster viewing opportunity
Registration, Networking & Breakfast
Poster viewing opportunity
09:15
Introduction and Chairs Morning Session
Dr Grace Vassallo
Consultant Paediatric Neurologist and Clinical Lead HSS Complex NF1 Service
Manchester University NHS Foundation Trust
Prof. 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
Introduction and Chairs Morning Session
09:30
Keynote Lecture: 32 Years as an NF-ologist
Prof Gareth Evans
Professor in Medical Genetics and Cancer Epidemiology Clinical Lead Manchester HSS NF2 Service
University of Manchester UK
Keynote Lecture: 32 Years as an NF-ologist
Dr. Sue Huson Clinical Geneticist & Meena Upadhyaya Distinguished Professor ( Hon) Division of Cancer and Genetics Cardiff University
10:00
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
10:10
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
10:20
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
10:30
Questions from Oral Presentations
Questions from Oral Presentations
10:40
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
11:30
Challenges in NF2 novel therapy research, patient non-profit perspective.
Gilles Atlan
Vice President
NF2 BioSolutions UK & Europe
- Challenges in NF2 novel therapy research, a patient non-profit perspective. 4 years of updates, challenges and innovation by NF2 BioSolutions. Gilles Atlan - Vice President NF2 BioSolutions
- Sporadic and NF2 Schwannomatosis Vestibular Schannomas Share Homogeneous Tumour Microenvironments- Grace Gregory, PhD Student (NF2 Biosolutions), University of Manchester
- High dimensional imaging highlights the T-cell compartment as a viable therapeutic target in the vestibular schwannoma tumour microenvironment- Adam Paul Jones, PhD Student ( NF2 Biosolutions ), University of Manchester
12:15
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
12:30
Lunch and Networking Break. Poster Viewing and Special Interest Breakout Sessions
- Lunch and Networking Break - Poster viewing opportunity
- Special interest breakout sessions with lunch
- Breakout session room 1 NF1 Neuromuscular Special Interest Group- Lead Dr. Amish Chinnoy Is NF1 muscle weakness due to neurological ('central') or muscular ('peripheral') pathology? With Contributions from Dr. Siobhan West Consultant Paediatric Neurologist for the complex NF1 service and Prof. Ir. Hans Degens, Professor of Muscle Physiology, Visiting Professor, Lithuanian Sports University, Kaunas Department of Life Sciences Research Centre for Musculoskeletal Science & Sports Medicine Manchester Metropolitan University
- Breakout session room 2 NF2/ Schwannomatosis Special Interest Group- Lead Prof Gareth Evans What do we still need for NF2/Schwannomatosis? Invited Speaker-Cristina Perez-Becerril- Research Associate, University of Manchester - Improving sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis
13:30
Chair afternoon: Prof G. Evans
Prof Gareth Evans
Professor in Medical Genetics and Cancer Epidemiology Clinical Lead Manchester HSS NF2 Service
University of Manchester UK
Chair afternoon: Prof G. Evans
13:30
Prof Eric Legius
Professor of Human Genetics
University of Leuven Belgium
14:00
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
14:10
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
14:20
Questions from Presentations
Questions from Presentations
14:25
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
Dr. Calvin Soh Consultant Neuroradiologist HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust
14:50
Diagnostic and classification challenges of NF1-related gliomas
- Ms Tina Karabatsou Consultant Neurosurgeon HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust and Northern Care Alliance NHS Foundation Trust and Professor Federico Roncaroli Professor of Neuropathology Northern Care Alliance NHS Foundation Trust and The University of Manchester
15:10
Questions from Case Presentations
- 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 Ms Tina Karabatsou Consultant Neurosurgeon HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust and Northern Care Alliance NHS Foundation Trust and Professor Federico Roncaroli Professor of Neuropathology Northern Care Alliance NHS Foundation Trust and The University of Manchester
15:20
Networking, Coffee Break and Poster Viewing Opportunity
Networking, Coffee Break and Poster Viewing Opportunity
15:40
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
15:40
Keynote Presentation: Epidemiology of NF1 and NF2 in Finland
Prof Juha Petonen
Cancer Research Unit and institute of Biomedicine
University of Turka Finland
Keynote Presentation: Epidemiology of NF1 and NF2 in Finland
16:10
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
- Dr Emily Wilkins, Paediatric Trainee North West Deanery
16:20
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
16:30
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
16:40
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
16:50
Opportunities from CTF Europe
Marco Nievo PhD, Chief Scientific Officer CTF Europe.
17:00
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
17:00
Keynote Lecture: Key neuroradiological features in Paediatric NF1 and NF2
Prof Stavros Stivaros
Professor Paediatric Neuroradiology and Translational Imaging
University of Manchester UK
Keynote Lecture: Key neuroradiological features in Paediatric NF1 and NF2
Close of Event Day 1
19:00
Conference Meal, Awards and Entertainment
Conference Meal, Awards and Band Entertainment
08:00
Registration & Breakfast - Networking & Poster viewing
Registration & Breakfast - Networking & Poster viewing
08:00
Symposium: Call for an international consortium for the validation of the cNFSkindex questionnaire and other patient reported outcome measures in NF
Laura Fertitta1 and Britt Dhaenens2, Rianne Oostenbrink2, Pierre Wolkenstein1 1 Department of Dermatology, National Referral Center for Neurofibromatoses, Henri Mondor Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Créteil, France. 2 Department of General Paediatrics, Erasmus MC- Sophia's Children's Hospital, Rotterdam, The Netherlands.
09:00
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
09:00
Prof Rosalie Ferner
Professor of Neurology/National Lead
Guy's and St Thomas' Foundation Trust and HSS Complex NF1 Service in the UK
MPNST
09:30
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)
Prof Christopher L. Moertel, University of Minnesota School of Medicine, University of Minnesota Masonic Children's Hospital
09:40
Overall survival amongst patients with neurofibromatosis type 1 and malignant peripheral nerve sheath tumor
Stine Bogetofte Thomasen, Research Student, Aarhus University Hospital, Denmark
09:50
Increased risk of endocrine morbidity in individuals with NF1: A Danish population-based cohort study
Line Kenborg, Senior Scientist, Danish Cancer Society Research Center
10:00
Questions from Oral Presentations
Questions from Oral Presentations
10:10
Keynote Lecture: Treatment of Ependymoma in NF2
Prof Michel Kalamarides
Professor and Director of Neurosurgery
Pitie-Salpetrire Hospital
Prof Michel Kalamarides Professor and Director of Neurosurgery at Pitie-Salpetrire Hospital
10:40
Radiation treatment of benign tumours in NF2-schwannomatosis: a national study of 266 irradiated patients showing a significant increase in malignancy
Prof Gareth Evans
Professor in Medical Genetics and Cancer Epidemiology Clinical Lead Manchester HSS NF2 Service
University of Manchester UK
Prof. Gareth Evans
Professor in Medical genetics and Cancer Epidemiology, University of Manchester, UK
10:50
Challenges of a giant thoracic meningocele with insights from the histology
Mr Joshi George, Consultant Neurosurgeon HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust and Northern Care Alliance NHS Foundation Trust
11:00
Keynote Lecture: Animal Models in NF
Prof Marco Giovannini
Professor of Neck and Head Surgery
University of California Los Angeles
Keynote Lecture: Animal Models in NF
11:30
Poster Presentations - Mezzanine floor - 11:30am - 13:00pm
Poster Presentations - Mezzanine floor
11:30
Breakout sessions - 11:30am - 13:00pm
- Breakout Session 1: Mental Health In NF Special Interest Group- Leads Dr Shruti Garg , Louise Robinson and Andre Reitman
- Breakout session 2: Update on the International Neurofibromatosis and Schwannomatosis Genes Variant Curation Expert Panel (VCEP)” Prof Scott Plotkin and Dr. Elisabeth Castellanos Germans Trias & Pujol Research Institute (IGTP) and Coordinator of Clinical Genomics Unit at Clinical Laboratory of North Metropolitan (LCMN) located at Hospital University Germans Trias & Pujol.Badalona, Barcelona (Catalonia, Spain).
Lunch and Networking
13:00
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)
|
Susceptibility locus for sporadic vestibular schwannoma identified by genome-wide association analysis
Dr Miriam Smith,Senior Lecturer in Cancer Genomics, The University of Manchester
|
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
|
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
|
14:00
Questions from Parallel Sessions
NF1 - Park Lane Suite - Level 4 |
NF2 - Park Avenue Suite - Level 4 |
Questions |
Questions |
14:15
Networking and Coffee Break
Networking and Coffee Break
14:35
Chairs - Dr Grace Vassallo and Professor John-Paul Kilday
- Dr. Grace Vassallo- Consultant Paediatric Neurologist and Clinical Lead HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust.
- Prof JP Kilday Consultant Paediatric Neurooncologist for the Complex NF1 service.
14:35
The ultimate in MDT work-Paediatric NF1 case.
14:45
Can Selumetinib delay the need for surgery in Neurofibromatosis Type 1 (NF1) with a Spinal Phenotype? - a multi-disciplinary approach
Dr Alexander Lee, Consultant Medical Oncologist, The Christie NHS Foundation Trust and HSS Complex NF1 Service Manchester University Hospital NHS Foundation Trust
14:55
Questions from Case Study
Open questions from the Audience
15:00
Keynote Presentation: Medical Therapy in NF2
Prof Scott Plotkin
Professor of Neurobiology
Harvard
Keynote Lecture
Medical Therapy in NF2
15:30
Symposium: Advancing treatments for NF1 related cognitive and behavioural difficulties
Dr. Shruti Garg
Consultant in Child and Adolescent Psychiatry and Clinical Research Fellow
The Institute of Brain, Behaviour and Mental Health, University of Manchester, UK
Symposium: Advancing treatments for NF1 related cognitive and behavioural difficulties
Chair: Dr. Shruti Garg Consultant in Child and Adolescent Psychiatry, Royal Manchester Children’s Hospital and Clinical Senior Lecturer at University of Manchester
Overview and introduction
15:30
Overview and Introduction
Overview and Introduction
15:40
Insights from longitudinal studies of brain development in NF1 (EDEN study).
Professor Emily Jones , Professor of Translational Neurodevelopment, Birkbeck College , London
16:00
Cortical oscillatory activity in NF1
Samantha Booth, PhD Student University of Manchester
16:20
Early intervention studies in infancy
Prof Jonathan Green, Professor of Child/Adolescent Psychiatry University of Manchester and Honorary Consultant Child & Adolescent Psychiatrist at Manchester University NHS Trust
16:40
Novel interventions in NF1
Dr Shruti Garg, Garg Consultant in Child and Adolescent Psychiatry, Royal Manchester Children’s Hospital and Clinical Senior Lecturer at University of Manchester
17:00
Prof Gareth Evans
Professor in Medical Genetics and Cancer Epidemiology Clinical Lead Manchester HSS NF2 Service
University of Manchester UK
Dr Grace Vassallo
Consultant Paediatric Neurologist and Clinical Lead HSS Complex NF1 Service
Manchester University NHS Foundation Trust
Closing Address Prof Evans and Dr. G.Vassallo
Close of Event