31 July – 1 August 2021
The virtual European Aniridia Conference (EAC) enables the sharing of scientific knowledge about the rare genetic eye condition aniridia. Its goal is to prevent sight loss and deal with aniridia’s effects.
It brings together patients and the world’s top experts to upskill the clinical, research and aniridic communities.
Take part to get insights from those developing and delivering treatments and people living with the complex visual impairment.
Understanding aniridia is challenging, due to the scattered patient population, its highly variable impact and complications of linked conditions.
Happening online for the first time, the biennial EAC innovatively addresses this.
You should come if: you or a relative have aniridia or you are a professional such as: ophthalmologist, researcher, vision scientist or geneticist.
Espeically welcome are people from smaller and eastern European countries which are ‘under-represented’ in terms of scientific research and patient associations.
More about European Aniridia Conference
Conference delegates from outside the UK, with aniridia or their relatives could ask for a free video consultation with a Moorfields specialist in ophthalmology, paediatrics or low vision aids.
6 expert doctors experienced in aniridia are held six 25-minute online clinics the day before the conference starts. They are available only to people with a European Aniridia Conference ticket.
The conference content was managed by a team of highly distinguished, foremost experts based at the world renowned Moorfields Eye Hospital and UCL Institute of Ophthalmology.
The very best ophthalmologists, researchers, vision scientists and geneticists from around the globe showcased the latest work on all aspects of aniridia.
The event was organised by Aniridia Network, the UK charity and patient association for people affected by aniridia.
Support has came from Aniridia Europe the federation of patient associations and representatives,
Funding was provided by European Union’s Horizon 2020 research and innovation programme.
“Bringing together patients, clinicians and scientists in one meeting is the most productive path to developing new disease management and therapeutic approaches.
The 5th EAC will discuss corneal disease stem cell therapy and mutation-dependent drug treatments.”
A clinical scientist with an interest in inherited eye disease. He was appointed to the Duke -Elder Chair of Ophthalmology at University College London in 2001 and moved an endowed chair in Ophthalmology atUniversity fo California San Francisco in 2014
A clinical scientist with an interest in inherited eye disease. He was appointed to the Duke -Elder Chair of Ophthalmology at University College London in 2001 and moved an endowed chair in Ophthalmology atUniversity fo California San Francisco in 2014
Russell was at Imperial College as chair of Molecular Neuroscience within the Faculty of Medicine. His research spans basic and applied circadian and photoreceptor biology.
He received his education at the University of Bristol under the supervision of Professor Sir Brian Follett. from 1988–1995 he was a member of the National Science Foundation Center for Biological Rhythms at the University of Virginia and worked closely with Michael Menaker. In 1995 he returned to the UK and established his group at Imperial College. For his discovery of non-rod, non-cone ocular photoreceptors he has been awarded the Honma prize (Japan), Cogan award (USA), and Zoological Society Scientific & Edride-Green Medals (UK). He is the co-author of “Rhythms of Life” a popular science book on circadian rhythms.
Russell was at Imperial College as chair of Molecular Neuroscience within the Faculty of Medicine. His research spans basic and applied circadian and photoreceptor biology.
He received his education at the University of Bristol under the supervision of Professor Sir Brian Follett. from 1988–1995 he was a member of the National Science Foundation Center for Biological Rhythms at the University of Virginia and worked closely with Michael Menaker. In 1995 he returned to the UK and established his group at Imperial College. For his discovery of non-rod, non-cone ocular photoreceptors he has been awarded the Honma prize (Japan), Cogan award (USA), and Zoological Society Scientific & Edride-Green Medals (UK). He is the co-author of “Rhythms of Life” a popular science book on circadian rhythms.
Graduated Medical University of Varna, and following specialized training became a specialist in ophthalmology in 1996. She continued her studies with short fellowships at Moorfields Eye Hospital, London and Dundee University, UK. In 2000 she relocated to New Zealand as a Senior Research Fellow at Auckland University and Corneal Fellow at Auckland State Hospital for three years. During that period she completed a PhD with high commendations and Best Doctorial Thesis Prize of Auckland University for 2002. On return to Varna she was appointed as Associated Director of Specialized Eye Hospital Varna and shortly after as Associated Professor at Medical University of Varna. In 2007 she was invited to complete a DSc and in 2010 was elected a full National Professor in Ophthalmology.
Graduated Medical University of Varna, and following specialized training became a specialist in ophthalmology in 1996. She continued her studies with short fellowships at Moorfields Eye Hospital, London and Dundee University, UK. In 2000 she relocated to New Zealand as a Senior Research Fellow at Auckland University and Corneal Fellow at Auckland State Hospital for three years. During that period she completed a PhD with high commendations and Best Doctorial Thesis Prize of Auckland University for 2002. On return to Varna she was appointed as Associated Director of Specialized Eye Hospital Varna and shortly after as Associated Professor at Medical University of Varna. In 2007 she was invited to complete a DSc and in 2010 was elected a full National Professor in Ophthalmology.
Graduated with a PhD from the University of Strathclyde and took up a postdoctoral Fellowship at Jules Stein Eye Institute at UCLA, USA. She then returned to the Institute of Ophthalmology at UCL for 6 years before taking up a Faculty position at Imperial College London in 1997. In 2009 she was recruited to the Department of Ophthalmology at University of British Columbia in Vancouver, Canada. Her laboratory is focussed on understanding the genetic causes of childhood ocular diseases including aniridia, ocular coloboma and inherited retinal degenerations and designing targeted therapeutics strategies.
Graduated with a PhD from the University of Strathclyde and took up a postdoctoral Fellowship at Jules Stein Eye Institute at UCLA, USA. She then returned to the Institute of Ophthalmology at UCL for 6 years before taking up a Faculty position at Imperial College London in 1997. In 2009 she was recruited to the Department of Ophthalmology at University of British Columbia in Vancouver, Canada. Her laboratory is focussed on understanding the genetic causes of childhood ocular diseases including aniridia, ocular coloboma and inherited retinal degenerations and designing targeted therapeutics strategies.
Prof. Lagali conducts research on corneal disease, regenerative medicine and imaging in ophthalmology. He has conducted aniridia research in Sweden, Norway, Poland and Germany, and is Chair of the European Union’s COST Action ANIRIDIA-NET (2019-2023). He is also a member of the Scientific Committee of Aniridia Europe.
Prof. Lagali conducts research on corneal disease, regenerative medicine and imaging in ophthalmology. He has conducted aniridia research in Sweden, Norway, Poland and Germany, and is Chair of the European Union’s COST Action ANIRIDIA-NET (2019-2023). He is also a member of the Scientific Committee of Aniridia Europe.
My focus is distributed in clinical practice, teaching and research, currently pediatric anterior segment, ocular surface, strabismus and oculo-plastic surgery.
My focus is distributed in clinical practice, teaching and research, currently pediatric anterior segment, ocular surface, strabismus and oculo-plastic surgery.
He has clinical and basic science research interest in aniridia related keratopathy (ARK), the corneal changes associated with aniridia and PAX6 mutations. His interest is in the developed of novel stem cell-based therapies for the corneal disease.
He has clinical and basic science research interest in aniridia related keratopathy (ARK), the corneal changes associated with aniridia and PAX6 mutations. His interest is in the developed of novel stem cell-based therapies for the corneal disease.
Specialises in genetic eye disease including aniridia, anterior segment dysgenesis, congenital cataracts, glaucoma, microphthalmia, anophthalmia and ocular coloboma and inherited retinal diseases.
Specialises in genetic eye disease including aniridia, anterior segment dysgenesis, congenital cataracts, glaucoma, microphthalmia, anophthalmia and ocular coloboma and inherited retinal diseases.
I studied Medicine at Edinburgh, then did a DPhil in developmental neuroscience at Oxford, studied the molecular genetics of development at Berekeley, USA, before becoming a researcher in early brain development at the University of Edinburgh.
I studied Medicine at Edinburgh, then did a DPhil in developmental neuroscience at Oxford, studied the molecular genetics of development at Berekeley, USA, before becoming a researcher in early brain development at the University of Edinburgh.
Director of Cells for Sight Stem Cell Therapy Research Unit: a MHRA licensed state-of-the-art GMP facility available to academic and commercial researchers for the manufacture of Advanced Therapy Medicinal Products.
Member of Aniridia Europe Committee.
Director of Cells for Sight Stem Cell Therapy Research Unit: a MHRA licensed state-of-the-art GMP facility available to academic and commercial researchers for the manufacture of Advanced Therapy Medicinal Products.
Member of Aniridia Europe Committee.
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 skin and cornea pathophysiology.
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 skin and cornea pathophysiology.
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.
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.
Rutter trained in Cell Biology and Biochemistry at the University of Bristol before Fellowships in Geneva, Switzerland, and Bristol. He became Professor of Biochemistry in Bristol in 2002 and moved to Imperial College London in 2006. A Welcome Trust Investigator and Director of the Imperial Network of Excellence in Diabetes, his research focus is on the genetic and environmental drivers of type 2 diabetes. A former Royal Society Merit Award holder, he was awarded the Minkowski Prize of the European Association for the Study of Diabetes in 2004 and the Dorothy Hodgkin Lecture of Diabetes UK in 2014. Rutter is also Visiting Professor at Nan Yang Technological College, Singapore and the University of California, San Francisco.
Rutter trained in Cell Biology and Biochemistry at the University of Bristol before Fellowships in Geneva, Switzerland, and Bristol. He became Professor of Biochemistry in Bristol in 2002 and moved to Imperial College London in 2006. A Welcome Trust Investigator and Director of the Imperial Network of Excellence in Diabetes, his research focus is on the genetic and environmental drivers of type 2 diabetes. A former Royal Society Merit Award holder, he was awarded the Minkowski Prize of the European Association for the Study of Diabetes in 2004 and the Dorothy Hodgkin Lecture of Diabetes UK in 2014. Rutter is also Visiting Professor at Nan Yang Technological College, Singapore and the University of California, San Francisco.
Specialises in neuro-ophthalmology, paediatrics and strabismus and has an international research reputation in the area of infantile nystagmus, pediatric retinal development and optical coherence tomography (OCT). She has recently been awarded an MRC Clinician Scientist fellowship to investigate the role of Oral Levodopa in improving Visual development in Infants and young children with Albinism (the OLIVIA study).
Specialises in neuro-ophthalmology, paediatrics and strabismus and has an international research reputation in the area of infantile nystagmus, pediatric retinal development and optical coherence tomography (OCT). She has recently been awarded an MRC Clinician Scientist fellowship to investigate the role of Oral Levodopa in improving Visual development in Infants and young children with Albinism (the OLIVIA study).
I lead regional paediatric cataract, nystagmus and oculo-genetic services and am a member of the RCOphth genomics working group and paediatric and academic sub-committees. I lead a research group with an interest in paediatric ophthalmic disorders including aniridia / nystagmus / albinism / retinal disorders and is a scientific advisor for 3 charities and ambassador for the David Katz foundation.
I lead regional paediatric cataract, nystagmus and oculo-genetic services and am a member of the RCOphth genomics working group and paediatric and academic sub-committees. I lead a research group with an interest in paediatric ophthalmic disorders including aniridia / nystagmus / albinism / retinal disorders and is a scientific advisor for 3 charities and ambassador for the David Katz foundation.
Since 2016 has been working in the lab of Prof David FitzPatrick (MRC Human Genetics Unit, IGMM) undertaking a Wellcome Trust-funded PhD investigating the genetic and development basis of PAX6-negative aniridia. Has aspecial interest in paediatric ophthalmology
She has family members with aniridia
Wellcome Trust ECAT Clinical Lecturer
Since 2016 has been working in the lab of Prof David FitzPatrick (MRC Human Genetics Unit, IGMM) undertaking a Wellcome Trust-funded PhD investigating the genetic and development basis of PAX6-negative aniridia. Has aspecial interest in paediatric ophthalmology
She has family members with aniridia
Wellcome Trust ECAT Clinical Lecturer
I have a specialist interest in inherited corneal disease and the medical and surgical options for visual improvement in aniridia.
I have a specialist interest in inherited corneal disease and the medical and surgical options for visual improvement in aniridia.
Born in Russia. Degree PhD in Psychology in 1997. In 2014 elected to Board of Aniridia Europe. Published more then 20 articles about the psychological states of children of different age groups in the educational process.
Born in Russia. Degree PhD in Psychology in 1997. In 2014 elected to Board of Aniridia Europe. Published more then 20 articles about the psychological states of children of different age groups in the educational process.
My name is Beth, I have aniridia, I am blind and live in north-east England with my 2 children and my guide dog Minty. My daughter has aniridia. I work part time for a local user-led disability charity. I originally set up Aniridia Network with my friend Hannah just over 20 years ago but stepped back from volunteering due to family commitments.
My name is Beth, I have aniridia, I am blind and live in north-east England with my 2 children and my guide dog Minty. My daughter has aniridia. I work part time for a local user-led disability charity. I originally set up Aniridia Network with my friend Hannah just over 20 years ago but stepped back from volunteering due to family commitments.
Keith inherited aniridia, is the son visually impaired parents, and leads an independent life, including his full-time role as Head of Digital and Communications at Social Care Institute for Excellence
Keith inherited aniridia, is the son visually impaired parents, and leads an independent life, including his full-time role as Head of Digital and Communications at Social Care Institute for Excellence
1st medical resident, specialising in genetics at Lithuanian University of Health sciences (LUHS) Kauno Klinikos
1st medical resident, specialising in genetics at Lithuanian University of Health sciences (LUHS) Kauno Klinikos
CEO & CBDO at KRASCO Co Ltd
CEO & CBDO at KRASCO Co Ltd
Completed her doctoral degree in 2020, working on the retina in congenital aniridia. She is currently undertaking post-doctoral research at USN National Center for Optics, Vision and Eye Care.
Completed her doctoral degree in 2020, working on the retina in congenital aniridia. She is currently undertaking post-doctoral research at USN National Center for Optics, Vision and Eye Care.
Dulce works in aniridia research since early 2019 as a postdoctoral researcher under Prof Moosajee’s supervision at the UCL Institute of Ophthalmology in London, UK.
Dulce works in aniridia research since early 2019 as a postdoctoral researcher under Prof Moosajee’s supervision at the UCL Institute of Ophthalmology in London, UK.
I have been a trustee since 2009 and have sporadic aniridia. Every day I use magnification, a monocular and dry-eyedrops. For a while, before 2 cataract operations restored deteriorating vision, I briefly used a white cane.
My 20 year career has been in IT and communications. I’m now a civil servant making websites accessible. I’ve been involved with several voluntary/charity sector organisations.
I have been a trustee since 2009 and have sporadic aniridia. Every day I use magnification, a monocular and dry-eyedrops. For a while, before 2 cataract operations restored deteriorating vision, I briefly used a white cane.
My 20 year career has been in IT and communications. I’m now a civil servant making websites accessible. I’ve been involved with several voluntary/charity sector organisations.
Joined the Nystagmus Network as a member in 1991 when her baby daughter was diagnosed. She is now proud to lead the charity's small staff team.
Joined the Nystagmus Network as a member in 1991 when her baby daughter was diagnosed. She is now proud to lead the charity's small staff team.
She has a Bachelor of Education with a Physical Education Major and a passion for recreation. She was born with an eye condition but did not know the name until in her early 20's.
She has a Bachelor of Education with a Physical Education Major and a passion for recreation. She was born with an eye condition but did not know the name until in her early 20's.
linician-Scientist with a clinical interest in ocular surface disease and limbal stem cell deficiency. The focus of our research is on developing regenerative therapies for severe corneal diseases.
linician-Scientist with a clinical interest in ocular surface disease and limbal stem cell deficiency. The focus of our research is on developing regenerative therapies for severe corneal diseases.
Led the group that helped to identify (1991) PAX6 as the gene mutated in Aniridia and went on to explore the effects of mutation on the eye and other regions of the body. Studied how PAX6 functions, together with other eye development genes.
Led the group that helped to identify (1991) PAX6 as the gene mutated in Aniridia and went on to explore the effects of mutation on the eye and other regions of the body. Studied how PAX6 functions, together with other eye development genes.
Born and living in Venice, Italy. Librarian, mother of a young man with aniridia, among the founders of Aniridia Italy and Aniridia Europe, currently president of the latter
Born and living in Venice, Italy. Librarian, mother of a young man with aniridia, among the founders of Aniridia Italy and Aniridia Europe, currently president of the latter
I am currently an ophthalmology registrar in Northern Ireland. I am interested in retinal diseases and my experience in recruiting patients for the 100k Genomes Project has piqued my interest in genetics. I would like to combine both areas in my future clinical practice.
I am currently an ophthalmology registrar in Northern Ireland. I am interested in retinal diseases and my experience in recruiting patients for the 100k Genomes Project has piqued my interest in genetics. I would like to combine both areas in my future clinical practice.
Father of a wonderful aniridic girl. President of the Italian Association that gathers people and families involved with Aniridia
Father of a wonderful aniridic girl. President of the Italian Association that gathers people and families involved with Aniridia
Over 20 years experience of researching the PAX6 gene and trying to understand the basis of aniridia-related corneal problems.
Over 20 years experience of researching the PAX6 gene and trying to understand the basis of aniridia-related corneal problems.
I am a PhD student at UCL, where I am looking at the genetic causes of congenital eye disorder microphthalmia using 3D stem cell models.
I am a PhD student at UCL, where I am looking at the genetic causes of congenital eye disorder microphthalmia using 3D stem cell models.
Specialising in paediatric cornea and external eye disease problems including aniridia and other developmental abnormalities of the front of the eye.
Specialising in paediatric cornea and external eye disease problems including aniridia and other developmental abnormalities of the front of the eye.
BSc in Biotechnology. MSc in Human Genetics and Assisted Reproduction Techniques.
BSc in Biotechnology. MSc in Human Genetics and Assisted Reproduction Techniques.
Developmental neuroscientist who has been studying PAX6 and aniridia for over 25 years.
Developmental neuroscientist who has been studying PAX6 and aniridia for over 25 years.
Girl and her firefighter father. Calnan is 11, has aniridia and was in the STAR study of the ataluren drug
Girl and her firefighter father. Calnan is 11, has aniridia and was in the STAR study of the ataluren drug
Together my wife and I have embarked on ways we can try and kickstart research into aniridia.
Together my wife and I have embarked on ways we can try and kickstart research into aniridia.
An Ophthalmology trainee in North London, and graduated with distinctions in Medicine, and first-class honours in Biochemistry. She is currently working towards a MD(Res) on Aniridia at UCL and the Institute of Ophthalmology.
An Ophthalmology trainee in North London, and graduated with distinctions in Medicine, and first-class honours in Biochemistry. She is currently working towards a MD(Res) on Aniridia at UCL and the Institute of Ophthalmology.
Jordi studied economics, worked in various social cooperatives, and has been working as REDTREE'S project coordinator since 2018.
Adrian studied biology at University of Valencia, but I've been working as International Officer/ Translator at REDTREE since 2018.
Redtree is an associated work cooperative made up of experts, trainers, educators and project consultants. We develop educational projects at European level.
Jordi studied economics, worked in various social cooperatives, and has been working as REDTREE'S project coordinator since 2018.
Adrian studied biology at University of Valencia, but I've been working as International Officer/ Translator at REDTREE since 2018.
Redtree is an associated work cooperative made up of experts, trainers, educators and project consultants. We develop educational projects at European level.
Board member of Aniridia Norway and their representative in the Erasmus+ project "Looking out for a school for all".
Board member of Aniridia Norway and their representative in the Erasmus+ project "Looking out for a school for all".
Currently working as a Cornea and External Disease Fellow with special interest in limbal stem cell deficiency and Ocular surface disorders.
Currently working as a Cornea and External Disease Fellow with special interest in limbal stem cell deficiency and Ocular surface disorders.
My research focuses on the study of diabetes. After finishing my PhD on the role of thyroxine in metabolism, I moved to Imperial College to study genetic factors affecting pancreatic function.
My research focuses on the study of diabetes. After finishing my PhD on the role of thyroxine in metabolism, I moved to Imperial College to study genetic factors affecting pancreatic function.
I’m a mom of 4 year old boy born with a sporadic aniridia in Lithuania. I founded The Lithuanian Aniridia association “AniridijaLT” on 2019 and working hard to build a stronger aniridia community not only in my country but also on the international level. I’m a part of the Aniridia Europe Digital Team and Nominating Committee.
I’m a mom of 4 year old boy born with a sporadic aniridia in Lithuania. I founded The Lithuanian Aniridia association “AniridijaLT” on 2019 and working hard to build a stronger aniridia community not only in my country but also on the international level. I’m a part of the Aniridia Europe Digital Team and Nominating Committee.
“Bringing together patients, clinicians and scientists in one meeting is the most productive path to developing new disease management and therapeutic approaches.
The 5th EAC will discuss corneal disease stem cell therapy and mutation-dependent drug treatments.”
“I want to explore the practicalities of care for patients. Routine diagnosis, treatment and monitoring of aniridia is not well understood by many. At the EAC we can disseminate and agree consistent pathways.”
"The EAC is highly valued because they bring together excellence in both fundamental scientific research and clinical practice, while at the same time providing opportunity for friendly and open engagement with patients.
I anticipate that this meeting will also be a vibrant and informative event, especially as the critical mass of clinicians and scientists rising to meet the challenges of understanding the role of genetic mutation in aniridia all the way through to clinical trials of novel therapies is growing”
"What I like most is the mix of people and good speakers. I love that professionals, scientists and patients are together to advance science and patient care.
It is a great chance to meet people from different backgrounds who have an interest in aniridia research."