new paper out: Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone‐Rod Dystrophy and Hearing Loss
We would like to invite you to the online kick-off symposium of the RARE-MED consortium on November 27, 2020, from 14-17.30 p.m. Registration is free of charge and can be done here. Please register if you wish to attend, as only registered people will receive a link for the symposium. The symposium program is displayed below.
RARE-MED is a multidisciplinary UGent consortium for basic and translational research on precision medicine for rare diseases, to address missing heritability using systems genetics and functional genomics, to facilitate disease modelling using CRISPR/Cas9-mediated genome editing of aquatic model organisms (zebrafish, Xenopus) and of cellular systems, to introduce new gene therapies based on antisense oligonucleotide- or CRISPR/Cas9-based genome editing. In the context of this 21ZAP consortium, 3 research professors were appointed: Prof. dr. Sarah Vergult, prof. dr. Kris Vleminckx, and prof. dr. Frauke Coppieters.
new paper out: Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
PHD Defence: Functional characterization of potential ciliary genes involved in syndromic inherited retinal diseases
PHD DEFENCE: Disclosing incidental and secondary findings in clinical genomics: professional practice, patient experience and ethical reflection
PhD defence: Communication through the eyes of the patient: the role of ethnicity, language and education
new paper out: Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
In a recently published manuscript in the prestigious journal Genetics in Medicine, a large group of collaborators, led by dr. Claire-Marie Dhaenens and prof. Frans Cremers in the Department of Human Genetics in Nijmegen, the Netherlands, identified the causal mutations in the ABCA4 gene in 448 individuals with Stargardt disease (STGD1). They employed a cost-effective method, based on so-called smMIPs, to sequence the complete ABCA4 gene consisting of 128,313 base pairs. Through a semi-automated procedure, they tested more than 1,000 probands with STGD1 and allied maculopathies for the presence of causal mutations (Khan et al. Genet Med, in press).
Remarkably, they found 105 causal mutations residing in the introns of the ABCA4 gene that led to the disruptive insertion of these non-coding sequences in the messenger RNA and thus a non-functional ABCA4 protein. Among 13 novel RNA insertions identified in splicing assays, they found two intriguing complex RNA defects due to variants in introns 13 and 44. In addition, they found 16 novel large deletions, two of which were complex. Altogether, these ‘hidden mutations’ were found in 27% of the 448 genetically solved cases, illustrating the unusually high proportion of these types of mutations in STGD1.
This study was made possible through the collaboration of 75 scientists and clinicians from 21 countries from all over the world. Due to the low sequencing costs (€ 30,- per case), the research team in Nijmegen now offers this test to any individual with STGD1 or allied maculopathy in the world, at no costs, on a research basis.
This work was made possible through several grants, the most significant of which were from the RetinaUK, Fighting Blindness Ireland, Foundation Fighting Blindness USA, and the EU.
New paper out: Mapping the cis-regulatory Architecture of the Human Retina Reveals Noncoding Genetic Variation in Disease
The John W. Mouton Pro Retina grant that was awarded to prof. Elfride De Baere for her research project Precision medicine in inherited blindness using integrated omics in patient-derived stem cell models was mentioned in the physicians' paper. To read the article click here.
Prof. De Baere was chosen as the Visionary for the first quarter of 2020 by vision-research.eu. To read more about her work on precision medicine to understand missing heritability in inherited retinal diseases, you can click here.
Every month, ERN-EYE invites you to meet an active person within the network through a short interview. This month, it's prof. Elfride de Baere who accepted to answer their questions. You can read the entire interview here or watch the video below.
New paper out: Functional Characterization of Novel MFSD8 Pathogenic Variants Anticipates Neurological Involvement in Juvenile Isolated Maculopathy
New paper out: The Majority of Autosomal Recessive Nanophthalmos and Posterior Microphthalmia Can Be Attributed to Biallelic Sequence and Structural Variants in MFRP and PRSS56
New paper out: Functional Characterization of the First Missense Variant in CEP78, a Founder Allele Associated With Cone-Rod Dystrophy, Hearing Loss, and Reduced Male Fertility