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Next ERN-EYE webinar
5th June 2023
4.00 pm CEST
Genetic Testing Strategies for Rare Eye Diseases (RED)
Connection link will be sent shortly before the event. Registration is open until 5th June, 2 pm.
1. Clinical exome and genome sequencing for diagnostics of RED
Elfride De Baere, Ghent University Hospital, Ghent, Belgium
2. Interpretation of sequence variants in RED
Lonneke Haer-Wigman, Radboud University Medical Center, Nijmegen, The Netherlands
3. Collection and classification of variants associated with RED - IRD as an example
Frans PM Cremers, Radboud University Medical Center, Nijmegen, The Netherlands
Elfride De Baere, Center for Medical Genetics, Ghent University Hospital & Dept of Biomolecular Medicine, Ghent University, Belgium
Prof. De Baere is Head of Clinic at the CMGG, which offers genetic testing for a wide variety of rare eye diseases such as inherited retinal diseases (IRD), cataract, developmental eye diseases, corneal dystrophies, glaucoma. She chairs the TWG6 'Genetic Diagnostics' of ERN-EYE. She is member of several ocular ClinGen working groups and co-chairs the ABCA4 Variant Curation Expert Panel. She leads the Ophthalmic and Developmental Genetics research team at Ghent University, which is focused on genomics and multi-omics of IRD. She has a special interest in noncoding variation as contributor to missing heritability of IRD and other Mendelian diseases.
Lonneke Haer-Wigman, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Dr. Haer-Wigman works since 2015 as clinical scientist and then as a recognized Clinical Laboratory Geneticist at the department of Human Genetics at RaboudUMC. As a former postdoctoral fellow researching the genetic and genomic basis of IRD, she is very experienced in investigating the genetic cause of disease in patients with IRD. She analyses and interprets clinical exome results from patients with visual impairment.
Frans PM Cremers, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Together with Dr. Susanne Roosing, prof. Cremers is heading the Blindness Genetics workgroup of the Department of Human Genetics. Their team discovered >30 genes implicated in inherited retinal diseases (IRD). They successfully employed smMIPs, whole genome sequencing, optical genome mapping and transcriptomics to identify genetic defects in IRD. Prof. Cremers identified and functionally studied deep-intronic variants, with a special interest in ABCA4. He also took the lead in establishing Leiden Open Variation Databases (LOVDs), aimed to register all published variants and cases for 200 non-syndromic IRD-associated genes, Usher syndrome and Bardet-Biedl syndrome in 2023.
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This ERN is supported by: