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Next ERN-EYE webinars

3rd February 2022

6.30 pm - 7.30 pm CET

Neurofibromatosis 1 & 2, an overview

ERN-EYE joint webinar with ERN Genturis, the ERN dedicated to Genetic Tumour Risk Syndromes.

Connection link will be sent shortly before the event. Registration is open until 3rd February, 12 am.

ELegiusEric Legius

Eric Legius is a clinician scientist. He was the head of Scientific Department for Human Genetics at the Catholic University of Leuven till 2016 and he was the clinical director of the Clinical Department of Human Genetics of the University Hospitals Leuven till the end of 2021. Eric Legius is member of the European Research Network GENTURIS (genetic tumour risk syndromes, including neurofibromatosis type 1 and type 2).

His research is targeted towards neurofibromatosis type 1 and related conditions. The research group contributed successfully towards the understanding of the molecular aetiology of a number of tumours in NF1 such as benign neurofibromas, gastrointestinal stromal tumours (GIST), atypical neurofibromas, malignant peripheral nerve sheath tumours and glomus tumours of the digits. His research group was also involved in the molecular and cognitive characterization of the NF1 microdeletion region.

In 2007 the research team identified a new condition resembling neurofibromatosis type 1, now known as Legius syndrome (autosomal dominant condition caused by a heterozygous mutation in SPRED1).  His research group is using animal models to gain insight in the importance of SPRED1, neurofibromin and other proteins of the RAS-MAPK pathway for cognition. For SPRED1 research there is a strong collaboration with prof Aki Yoshimura from the Keio University in Tokyo, Japan and with prof Ludwine Messiaen who worked at the University of Alabama in Birmingham, USA.

Dominique Brémond-Gignac

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Dominique BREMOND-GIGNAC, MD, PhD, FEBO, is Professor of Ophthalmology Head of Ophthalmology Department with pediatric subspecialty and ocular surface at University Hospital Necker-Enfants malades and Paris University in Paris. Head of Paris Orthoptic Department, affiliated to INSERM UMRS 1138, Team 17 Research Unit, in innovation therapy. Her activity is distributed in clinical practice, teaching and research. Current practice includes pediatric anterior segment, ocular surface, strabismus and oculo-plastic surgery as she is also graduated in maxillo-facial surgery. Specialized in rare eye diseases, she is President of Scientific Committee of Aniridia Europe Association and Geniris. In april 2019 she received for a lecture Al Biglan Medal Distinction from Pittsburgh University (UPMC). Involved in visual health in children she is Executive member of WSPOS (World Strabismus and Pediatric Ophthalmology Society) and President Elect 2021 of EVER (European Association for Vision and Eye Research). Head of CLAIROP Research Clinical Center accredited by Europe EVI-CR and Head of OPHTARA Rare Eye Diseases Center accredited by French Health Ministry and ERN EYE (Europe). 

Matthieu Robert

Photo identité Matthieu ROBERT   copie

Kathleen Claes

Kathleen Claes, PhD, is heading since 2005 the ISO15189-accredited laboratory for molecular genetics at the Center for medical genetics in Ghent University Hospital and is associate professor at the department of Biomolecular Medicine, Ghent University, Belgium. She is PI of CRIG (Cancer Research Institute Ghent). She has a main interest in translational research, focusing on diagnosing a genetic predisposition to cancer. This includes studies in families, children and patients with a primary immunodeficiency and/or radiosensitivity. Zebrafish is applied as a model organism to set up assays for in vivo functional assessment of variants of unknown clinical significance in DNA repair genes and is used for xenografting of tumors to predict response to treatments. For early detection of cancer and therapy monitoring studies on liquid biopsies are ongoing (

At the international level she is active in several working groups of international consortia like ENIGMA and CIMBA. She is workpackage leader in the European Reference Network GENTURIS. She is chairing the BELMOLGEN working group of the Belgian Society of Human Genetics and is board member of the Belgian FAPA.

Claas Röhl


Claas Röhl has studied communication science at the University of Vienna after graduating from an engineering school in Vienna. He specialized in advertising and public relations and worked in film production and B2B-marketing. After the diagnosis of his daughter with Neurofibromatosis Type 1, a rare genetic tumor risk syndrom, he began his path into patient advocacy. He founded the Austrian patient organization NF Kinder in December 2013. After completing several educational programs for patient representatives on a European level (such as the EUPATI patient expert training course, EURORDIS summer school & winterschool), and by continuously building a national and international network and investing in care and research infrastructures in Austria, NF Kinder managed to establish the first Austrian center of expertise for Neurofibromatosis in Austria by forming a partnership with the Medical University of Vienna. On a European level Claas Röhl continued his ambition to create a better future for people living with Neurofibromatosis by co-founding NF Patients United, a European umbrella organization for NF patient organizations, as well as by being a member of the executive board of the ERN GENTURIS.


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