Scientific Committee and Chairs

Jorge Alió

Jorge L. Alió

Scientific Committee President | Chair

Prof. Dr. Jorge Alió, has been Professor and Chairman of Ophthalmology since 1987. Currently he is academically serving in Universidad Miguel Hernández as Professor and Chairman of Ophthalmology and Director of the Iberia Biobank and Biodata created jointly with the funding of the National Network of Clinical Research (OFTARED, National Health Institute Carlos III), where he is the Coordinator of Eye Diopter Research. 

Prof. Carmen Ayuso in her office

Carmen Ayuso

Scientific Committee

Head of the department of medical genetics at the Jiménez Díaz Foundation. Scientific Director of the IIS-FJD. Deputy Director of Research FJD. Since 1979, Dr. Ayuso has actively participated in the dissemination of advances in the field of genetics and genomics and its bioethical implications, participating in more than 450 lectures, round tables and conferences of recognized national and international prestige. 

Juliana Martínez-Atienza

Scientific Committee

Juliana Martínez has a PhD in Pharmacy from the University of Seville. For several years she has worked as a Project manager in the Andalusian Initiative for Advanced Therapies, organization belonging to the Regional Government of Andalusia (Spain).
She currently serves as Science Communication Manager of ANIRIDIA-NET COST Action CA18116.

Plenary sessions

José Carlos Pastor

Prof. Pastor is founder of the IOBA (Eye Institute, University of Valladolid, 1994). His current position is Emeritus professor of Ophthalmology (University of Valladolid), Director of the Retina Group at IOBA, full member of ERN-EYE, through Hospital Clinico in Valladolid, acredited as National Reference Centre in Spain and General Coordinator of Oftared (Cooperative Research Network, Carlos III Institute of Health). Director of 44 doctoral thesis and promoter of the National Observatory of Rare Eye Diseases (ONERO), 2019.

Marta Corton

Molecular geneticist focused on the genetics of rare eye disorders. Currently, principal investigator of the Ocular Developmental Pathologies group in IIS-Fundacion Jimenez Diaz Hospital (Madrid). She is specialised in Molecular Biology, Genomics and Proteomics, Human Genetics,
Rare diseases, Ophthalmogenetics, congenital ocular malformations, Retinal dystrophies, Tumour markers, Obesity, Insuline resistance, PCOS

Genetic Basis

Elizabeth M. Simpson

Dr. Simpson is a Senior Scientist at the Centre for Molecular Medicine and Therapeutics (CMMT) in Canada, a Professor at the University of British Columbia in the Department of Medical Genetics, and an Associate Member in the Department of Ophthalmology & Visual Sciences. 

The goal of her research is to improve treatment for human disorders of the brain and eye. Currently, she is focused on the development of DNA-based gene therapies.

Sophie Valleix

Fiona Blanco-Kelly

Medical Doctor and PhD, currently at Fundación Jimenez Díaz University Hospital. Having worked as Consultant at Oxford Genomic Medicine and Honorary Consultant at Moorfields Eye Hospital, London.
Master in Rare Diseases from the University of Valencia and Master in Clinical Genetics from the University of Alcalá de Henares.

Alexandra Filatova

Alexandra Yu Filatova

Researcher at the Medical Genetic Research Center, Moscow, Russia. Her PhD work is devoted to study of the pathogenicity mechanisms of PAX6 nucleotide variants found in patients with congenital aniridia.

Marta Corton

Molecular geneticist focused on the genetics of rare eye disorders. Currently, principal investigator of the Ocular Developmental Pathologies group in IIS-Fundacion Jimenez Diaz Hospital (Madrid). 

WAGR Spectrum

Kelly Trout

Kelly Trout

Kelly Trout co-founded the International WAGR Syndrome Association (IWSA) in 2000. She assists families, clinicians, and researchers, manages the WAGR Syndrome Patient Registry, and has written numerous articles on this disorder for professional, lay, and web publications.


Norbert Graf

Prof. Dr. Norbert Graf is Professor of Paediatrics and Director of the Clinic for Paediatric Oncology and Haematology and a member of the Faculty of Medicine of the Saarland University. He is the chairman of the Renal Tumour Study Group of the International Society of Paediatric Oncology and the Principal Investigator of the current Trial for Childhood Renal Tumours within SIOP.

Dr. James Lauderdale - in zebra fish lab

James. D. Lauderdale

Dr. Lauderdale is currently professor in the Department of Cellular Biology at the University of Georgia.

His research is focused on understanding the effects of mutations in the PAX6 transcription factor,
especially those that give rise to the human genetic disorder known as aniridia, and in developing
approaches that can be used to better treat this disorder.

Jennifer Kalish

Jennifer M Kalish is a physician-scientist in the Division of Human Genetics, Children’s Hospital of Philadelphia. Jennifer does research in Cancer Research, Cell Biology and Genetics. Their current project is ‘Pediatric cancer predisposition’.


Anterior Chamber

Jorge Alió

Jorge L. Alió

Rafael Barraquer

Rafael Barraquer

Andres Vásquez Quintero

Andrés Vásquez Quintero

Juan Alvarez de Toledo

Juan Álvarez de Toledo

fabian fries

Fabian Fries

Fabian Fries studied medicine in Germany, Brazil and the United States. Works as an attending physician at the department of Ophthalmology Saarland University with Prof. Seitz and Prof. Käsmann-Kellner – more than 300 Aniridia patients.

Giulio Ferrari

Posterior Chamber

Barbara Käsmann-Kellner

Peter Netland

Peter Netland

Pilar Casas de Llera

Anidirida-net COST action

Neil Lagali

Neil Lagali

Dominique Bremond-Gignac

Dominique Bremond-Gignac

Dominique Bremond-Gignac is Professor of Ophthalmology, Head of Ophthalmology Department at University Hospital Necker-Enfants malades and Paris University. Current practice includes paediatric anterior segment, ocular surface, strabismus and oculo-plastic surgery as she is also graduated in maxillo-facial surgery. She is Executive member of WSPOS and President Elect 2021 of EVER. Head of CLAIROP Research Clinical Center and Head of OPHTARA Rare Eye Diseases Center. Specialized in Rare Eye Diseases and President of Scientific Committee of Aniridia Europe and Geniris (France).

Daniel Aberdam

Daniel Aberdam received his PhD from the Weizmann Institute of Sciences, has been recruited at INSERM (France) in 1995 and served as head of INSERM units. He became an expert in stem cells and epithelial pathophysiology related to skin and cornea.

Heli Skottman

Heli Skottmann

mariya moosajee

Marija Moosajee

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