C
Clinical Care Advisory Board
Chair
Amedeo Azizi, MD
Medical University of Vienna, Austria
Council Members
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Professor Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis and breast/colorectal cancer. He has published 847 peer reviewed research publications; 301 as first or senior author. He has published over 120 reviews and chapters and has had a book published by Oxford University Press on familial cancer. He has an ISI web of knowledge H-index of 109 and google scholar of 147 having only published his first article in 1990. In the last 7 years he has raised over £50 million in grants for multicentre and local studies – approximately £42 million to Manchester. He is Chief Investigator on two NIHR program grants (2009-2014-£1.59 million) (2017-2020-£1million) on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has supervised 13 successful doctoral theses and is currently supervising five. He has led a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service. He is overall cancer lead (3 themes) and Cancer Prevention Early detection theme lead on the successful all Manchester NIHR Biomedical research centre bid (2017-2022-£28.5million). He is lead clinician on the NICE familial breast cancer guideline group and until recently a trustee of Breast Cancer Now and the Neuro Foundation. He is on the editorial board of JNCI.
Professor Gareth Evans plays a pivotal role in Cancer Genetics in the UK. He is an international leader in risk stratification in familial breast cancer. His Manchester Score for BRCA1/2 mutation likelihood is used nationally/internationally. He chaired the NICE Guideline Development Group on Familial Breast Cancer (2003-12) and currently serves as clinical lead. His £2.6M NIHR funded PROCAS studies recruited the highest number of patients UK-wide on a portfolio study (n=58,000) and this has demonstrated the feasibility of population risk stratification and acceptability by women.
Professor Evans is recognised as the international leader in the genetics and epidemiology of Neurofibromatosis type 2 and his ground-breaking research on mosaicism and mortality has had a major impact on treatment of this serious inherited condition. He won and leads the £7.5M p.a National Highly Specialised Service for NF2 commissioned in 2010 and pioneered use of the drug bevacizumab which along with multidisciplinary care has already improved survival and quality of life for this life-limiting condition. In 2013 he led the team that identified SMARCE1 as the cause of the related condition hereditary clear cell meningioma. Work in Gorlin syndrome led to the discovery of SUFU as a cause of Gorlin syndrome that has redefined the risks of the associated childhood brain cancer, medulloblastoma (SUFU~30%; PTCH1~2%).
He is a second term NIHR Senior Investigator and has published widely and is Cancer Prevention theme lead on the all-Manchester BRC and is frequently invited as a keynote speaker to scientific conferences at home/abroad. He was a moving force of the Prevent Breast Cancer Appeal which helped establish the first dedicated breast cancer prevention centre in Europe (https://preventbreastcancer.org.uk/about-us/the-nightingale-centre/) and has been a trustee of five charities including Breast Cancer Now (previously chairman of the Scientific Advisory Board) and the Neuro Foundation
Dr. Said Farschtschi, consultant neurologist and clinical scientist, graduated from the Medical School of the Technical University Munich in 2011 and received his MD working in the experimental cardiology department of the Germen Heart Center Munich. From 2012 to 2019 he completed his neurology training at the University Medical Center Hamburg-Eppendorf. Since 2012 he works as a research fellow in the Phakomatoses Research Center Hamburg (Prof. V.-F. Mautner) and focuses on clinical research on pain, imaging and neuropathy especially in neurogenetic disorders. In 2017 he became chairman of the german lay organisation Bundesverband Neurofibromatose. Said is in charge of developing the International Center of Neurofibromatoses (ICNF) in Hamburg, a NF day hospital and multidisciplinary research facility. Since 2020 he is also working at the Multiple Sclerosis Outpatient unit of the University Medical Center Hamburg-Eppendorf and is interested in crosslinking research fields of neurogenetic and neuroinflammatory diseases with neurophysiological and imaging methods.
Professor Rosalie Ferner is a consultant Neurologist at Guy’s and St. Thomas’s NHS Foundation Trust and national lead clinician for the Complex Neurofibromatosis 1 Service. She is a Trustee and member of the Medical Advisory Board for the patient organisation Nerve Tumours UK and serves as vice chair for the European Clinical Care Advisory Board. She is a recipient of the European Theodor Schwann award for contribution to the field of neurofibromatosis.
She has extensive experience in the neurofibromatoses and her current specialist clinical work concentrates on NF1 and schwannomatosis. The neurofibromatosis centre at Guy’s Hospital has over 2,000 patients with NF1 / NF2 / Schwannomatosis. The aim of the national NF1 service is to give lifelong, multi-disciplinary, holistic care for people with complex, multi-system disease throughout the country.
Her doctoral thesis was on “Intellectual problems in neurofibromatosis 1” and her research interests include defining clinical phenotype in the neurofibromatoses, management of benign plexiform neurofibromas, the diagnosis of malignant peripheral nerve sheath tumours in NF1, and the development of robust clinical and patient focused outcome measures for monitoring therapy.
Dr. Garg is a clinical senior lecturer in Translational Child Psychiatry at the University of Manchester and Honorary Consultant in Child & Adolescent Psychiatry at the Royal Manchester Children’s Hospital. Her research is focused on understanding the neurobiology and developing new treatments for autism and learning difficulties associated with Neurofibromatosis type 1. She is a Francis Collins scholar funded by the Neurofibromatosis Therapeutic Alliance Program (NTAP). Her research is supported by awards from Rosetrees Trust, Action for Medical research, Newlife Foundation and Bailey Thomas Charitable fund.
She serves on the UK NIHR Health Technology Assessment Committee, Mental Health Translational research collaboration and as a Governor on the board of Manchester University Foundation NHS Trust. She has previously served on the National Institute of Clinical Excellence (NICE) expert advisory board. She is on the medical board of the UK NF charities including Nerve Tumours UK and Childhood Tumour Trust.
Michel Kalamarides, MD, PhD, is Professor of Neurosurgery and Chairman of the Department of Surgery, Research and Innovation in Pitie-Salpetriere Hospital – Sorbonne University in Paris, France. He is a group leader in the team Genetic and Development of brain tumors, part of the INSERM U1127 at the Brain and Spine Institute (Piti-Salpetriere). Its research group is working on meningioma, particularly using mouse models to dissect the mechanisms of meningioma initiation and progression. He is an expert in vestibular schwannoma, meningioma and spinal tumors surgery.
He is leading the French NF2 reference center and the French NF2 network and is active in the NF2 international network. With Olivier Sterkers, he organized in Paris in 2006 the first NF2 state of the art meeting (five others were subsequently organized around the world by NF2 centers). He co-chaired with n Ratner a CTF meeting in 2011 in Jackson Hole. He has helped to start NF2 clinic in different cities and he is affiliated to the Shangai –China- NF2 clinic located in the Ninth People’s Hospital.
Dr. Legius is a paediatrician-clinical geneticist and a professor of Human Genetics at the University of Leuven, Belgium. He was head of the Human Genetics Department of the University of Leuven from 2001 to 2005 and from 2010 to 2016. He is the head of the Clinical Department for Human Genetics of the University Hospital of Leuven since 2011. Dr Legius started the Leuven NF1 clinic for children in 1989 at the University Hospital in Leuven. He is the director of the multidisciplinary care programme for children and adults with NF1, NF2 and schwannomatosis. His research is targeted towards neurofibromatosis type 1 and related conditions. In 2007 his research team identified a new condition resembling neurofibromatosis type 1 known as Legius syndrome (autosomal dominant condition caused by a heterozygous mutation in SPRED1). His research group is using mouse models to gain insight in the importance of SPRED1 and the RAS-MAPK pathway for cognition.
His research contributed successfully towards the understanding of the molecular aetiology of several types of NF1-associated tumours including GIST, glomus tumours of the digits, atypical neurofibromas and malignant peripheral nerve sheath tumours. His research group was also involved in the molecular characterization of the NF1 microdeletion region and successfully identified the SUZ12 gene as the gene responsible for the increased risk of malignant peripheral nerve sheath tumours in individuals with an NF1 microdeletion. His team was involved in a clinical trial to improve cognitive aspects in children with NF1 using Simvastatin treatment (NF1-SIMCODA trial of Erasmus University Rotterdam) and in behavioural research in NF1 children including autism spectrum disorder.
Dr. Legius is a member of the European Reference Network (ERN) GENTURIS, and participates in the thematic group on neurofibromatosis. He is a member of the steering committee that revised the diagnostic criteria for NF1 and established criteria for Legius syndrome. Dr Legius is a member of EU-PEARL, an innovative medicines initiative from the EU (IMI2) focussing on the organisation of innovative clinical platform trials for NF1, NF2 and schwannomatosis.
Professor Mautner has been active in the field of neurofibromatoses more than thirty years. He established a national and international reputation in different areas of the field. He was responsible for setting up infrastructure previously missing in Germany. For more than twenty years, Prof. Mautner has been the head of the NF outpatient department in Hamburg which treats approximately 1,000 patients annually. Since 2004 it is an integral part of the neurological clinic of the University Medical Center in Hamburg-Eppendorf. He initiated the German Lay Group Association and served as the Board Director for many years and is now an honorary President of the association. Under his leadership, the organization has developed into a widely known and respected organization in Germany. For many years, Prof. Mautner has also been a Medical Advisor to the NF Center of the neurosurgical department of the University Medical Center in Tübingen.
His special interests in the field of neurofibromatosis are mosaicism in NF2, neuropsychological deficits in NF1 patients, neuro-imaging studies and cell biology in NF1 and NF2. He conducted clinical studies on attention disorder in NF1 children, showing that stimulant medication is an effective treatment. He introduced whole-body MRI as a novel investigation tool to characterize growth patterns of internal tumors in NF1. He was responsible for determining the efficacy of vitamin D3 treatment in stabilizing decreased bone density. He introduced bevacizumab therapy for treatment of vestibular schwannomas in NF2. He has published 295 peer-reviewed research publications, 115 as senior or first author. He raised about 2,5 million Euros for NF-related research projects during the last twenty years. He acts as a senior board member for the organization of the Neurofibromatosis Working Group (NF AG), which enables scientific collaborations and supports young colleagues in Germany. He is a member of the Medical Advisory Board of the Lay Organization Acoustic Neurinoma Society.
Rianne Oostenbrink is an Associate Professor in the Department of General Pediatrics, at Erasmus MC in Rotterdam, The Netherlands, and works as a general pediatrician in the outpatient clinic and pediatric emergency department. She is the coordinator of the ENCORE-NF1 expertise centre at ErasmusMC, a collaborative, multidisciplinary team for inherited neuro-cognitive developmental diseases, which leads the national NF1 clinical network in the Netherlands. She is developing a clinical pathway for children and adults with NF1. She has organised the national shared-care for NF1 in the Netherlands, in collaboration with the VSOP (organisation for collaborating patient organisations) and NFVN (NF Organisation of Netherlands).
Dr. Oostenbrink’s research experience is in the field of clinical decision making, clinical epidemiology, and clinical trials. She is the leader for the WP7 Neurofibromatosis work-package in the EU-PEARL project (IMI2-RIA funding, Platform trials for the development of treatments of complications in NF).
She participates in research on neurocognitive, behavioral, developmental, and social problems in children with NF1 within ENCORE.
In collaboration with the Dutch Society for Neurofibromatosis (NFVN) and the VSOP she contributes to several projects, including developing NF1 informational materials for patients and parents, e-learning projects for health care professionals, the National Standard of Care for NF1 patients, and the national NF1 guidelines.
Dr. Oostenbrink’s professional affiliations include: ERN GENTURIS, European Neurofibromatosis Group (ENFG), Dutch Society of Epidemiologie (vereniging voor Epidemiologie VvE), and the Medical Advisory Board of the Dutch National Neurofibromatosis Committee.
Professor Juha Peltonen, MD, PhD works in the Cancer Research Unit, Institute of Biomedicine, University of Turku, Finland. He has devoted to neurofibromatosis research since early 1980’s.
Dr. Peltonen received degrees of MD (1981) and PhD, (1985) “Connective tissue in von Recklinghausen’s neurofibromatosis” at the University of Turku, Finland. He then moved to the USA to serve as postdoc and later as associate professor, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, USA. On returning to Finland in 1990, Dr. Peltonen has worked as professor at the Universities of Oulu and Turku. The cellular composition and development of dermal neurofibromas, and skeletal manifestations in NF1 have been interests of Dr. Peltonen. More recent approaches include total population analyses of cancer in NF1. Dr. Peltonen’s group has established the Finnish Neurofibromatosis Registry which is the first total population based and comprehensive neurofibromatosis registry (JID 135:904-906, 2015). The Finnish NF Registry has enabled analyses on e.g. the distinctive cancer associations in patients with NF1 (JCO 34:1978-1986, 2016), and elucidation of the natural history of NF1. These aspects of NF1 research include, e.g. the comorbidities, incidence and survival.
Sirkku Peltonen, MD, PhD, has been studying neurofibromatosis in University of Turku, Finland and Thomas Jefferson University, Philadelphia, PA since late 1980’s. She is dermatologist in training and has led NF1 clinic in Turku University Hospital, Turku, Finland since 1999. Her studies on NF1 mainly consider the biology of cutaneous neurofibromas, but she has also published on translational and clinical topics on NF1 such as speech, osteoporosis and craniofacial features. Her most recent publications are epidemiological studies on NF1 and cancer, mortality, incidence, malformations and pregnancies. At present she works as a Professor of Dermatology and Venereology in University of Gothenburg, Sweden.
Dr. Scott Plotkin is Professor of Neurology at Harvard Medical School and is the Executive Director of Stephen E. and Catherine Pappas Center for Neuro-Oncology at Massachusetts General Hospital. Dr. Plotkin joined the faculty of Harvard Medical School in 2003 in the Department of Neurology. Dr. Plotkin’s research focuses on developing clinical trials for patients with NF1, NF2, and schwannomatosis. He has served as principle investigator on single and multi-center clinical trials and is an active member of several national consortia. In 2011, he co-founded the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. This collaboration has published consensus recommendations for clinical trial endpoints in trials for NF patients and continues to work closely with the FDA, Cancer Therapy Evaluation Program, and other agencies.
Dr. Plotkin has been a member of the CCAB since 2016 and the CCAB chair since 2018.
Dr. Cornelia Potratz is the head of the Neurofibromatosis Outpatient Clinic at the Center for Chronically Sick Children (SPZ) and Department of Pediatric Neurology at Charité, Universitätsmedizin Berlin. After graduation at the Humboldt-Universität zu Berlin, she completed her training as a pediatrician and subsequently as a neuropediatrician at various hospitals in Berlin, specializing first in pediatric epileptology and then expanding her professional track record to neurocutaneous syndroms.
Since 2016 she has led the phacomatosis outpatient department at Charité, the largest and most comprehensive diagnostic, treatment and support center within all of Germany.
She is also a member of the Charité Pediatric Epilepsy Center and its epilepsy surgery program. Dr. Potratz’s research focus is on natural history studies of NF1, and is starting clinical research projects in this field. She is also a member in the neurofibromatosis work-package of the EU-PEARL project.
Dr. Eva Trevisson is an Associate Professor of Medical Genetics at the University of Padova. She joined the Clinical Genetics Unit, at the Department of Women’s and Children’s Health of the University Hospital of Padova as a clinical geneticist in 2011. She is in charge with the Outpatient Clinic of Neurofibromatoses in this hospital, where both children and adults with NF1, NF2 and Schwannomatosis are evaluated. In addition, she supervises the Molecular Genetics Laboratory performing the genetic tests related to these conditions.
Dr. Trevisson has established a series of fruitful national and international collaborations in the field of neurofibromatoses. She is interested in different aspects of NF research, particularly in genotype-phenotype correlations, cancer risk, diagnostic and prognostic features of OPG, ophthalmological and neurological manifestations for NF1, and in pathogenesis for NF2/Schwannomatosis.
She has published 63 peer reviewed research articles and 12 reviews/chapters. She has an ISI web of knowledge H-index of 23 having only published her first article in 2005. In the last 9 years she has raised over 1 million € in grants for research studies.
Dr. Trevisson is a member of the European NF group and has been a member of Europe-CCAB since 2019.
Pierre Wolkenstein is Professor at the Faculty of Medicine and Health of Paris Est and was elected as Dean in December 2019.
He is dermatologist and oncologist, and head of the Department of Dermatology at Henri-Mondor Hospital (Assistance Publique – Hôpitaux de Paris). He used to be Head the Division of Cancer Immunity Transplantation and Infections, President of the French Society of Dermatology, President of the College of Professors of Dermatology in France, and Representative for France at the Board of the European Academy of Dermatology.
Since the 1990s, Pierre Wolkenstein has been coordinating the management and clinical research of neurofibromatoses and, especially neurofibromatosis type 1 in France. He conducted many clinical studies leading to high standard publications in the field. At the present time he is coordinating the French National Referral Center for Neurofibromatoses (Ministry of Health Rare Diseases program) The cohort of patients in the center is more than 2000.
His team performed the first face transplant in patients with neurofibromatosis 1, identified the first modifying gene, conducted therapeutic trials, and developed basic research on NF1 animal models with Piotr Topilko who is leading the translational research lab. He is collaborating with pharmaceutical companies for developing treatments of cutaneous neurofibromas. He has strong links with the French Neurofibromatoses Lay Group and at the present time is President of its scientific committee. In Paris in November 2018, he presided over the First Joint Global Neurofibromatoses Conference (Joint European and Children Tumor Foundation Meeting). He is at the present time the President of the European Neurofibromatoses Group.
He has published more than 387 papers and his H index is 51.
Hilde Margrete Dahl is a senior consultant in pediatric neurology at the Section for Child Neurology, Department of Neurosciences for Children at Oslo University Hospital in Oslo, Norway. She received her MD at the University of Oslo in 1993 and is a Norwegian board-certified specialist in Pediatrics.
Hilde was introduced to the NF community by professor emeritus Arvid Heiberg and Cecilie Rustad. She is responsible for the follow-up of all pediatric patients with NF1, NF2 and schwannomatosis at Oslo University Hospital and complicated cases from the South-East region of Norway. She now heads the multidisciplinary team for NF2, schwannomatosis and complicated NF1 at Oslo University Hospital, which she was involved in establishing in 2012.
May is ACTION MONTH for NF, and this toolkit is your key to making things happen.
