Publications
This is my archive
Finding the genome’s blind spot
A long-missing genetic explanation for inherited vision loss Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with night blindness in youth and progresses to tunnel vision as daylight-sensing photoreceptor cells in the retina gradually die, potentially leading to blindness over…
A zoo of features: Thalamic interneurons have different views – new insights into how the brain integrates visual information
All sensory stimuli—with the exception of smell—pass through the thalamus before reaching the cerebral cortex, which is the part of the brain that governs cognition. A small part of the thalamus, the dorsolateral geniculate nucleus (dLGN), mediates image perception. The dLGN contains two different neuron types, one of them being…
IOB researchers discover new gene linked to inherited blindness
In a groundbreaking study published in The American Journal of Human Genetics, the research team led by Carlo Rivolta has identified a new gene associated with retinitis pigmentosa, a hereditary form of blindness. The scientists discovered that mutations in the COQ8B gene can lead to non-syndromic retinitis pigmentosa. This finding is…
IOB scientists solve a 50-year-old vision mystery
In a groundbreaking study published today in Neuron, IOB scientists have identified a surprisingly simple and novel mechanism that regulates how our eyes process visual information at the very first step of seeing. The study focuses on the intricate communication between two types of cells in the retina: photoreceptors (specifically cones)…
IOB’s winter highlights 2024
Career milestone Postdoctoral fellow Arjun Bharioke became Assistant Professor at the Medical University of South Carolina (MUSC, Charleston, USA). His new lab combines optical methods to interrogate circuits with computational modelling and simulations, to build an understanding of how cortical circuits form, respond to changes, and generate cognitive functions. Grants to IOB researchers…
Rewriting genes to preserve eyesight
Breakthrough gene editing technique offers hope for Stargardt disease patients https://live-iob-basel.pantheonsite.io/app/uploads/2025/12/MOVIE_STARGARDT_Jan-2025.mp4 Researchers have developed a highly efficient gene editing therapy that could potentially treat Stargardt disease, the most common form of inherited macular degeneration. This groundbreaking study, published in Nature Medicine on 8 January 2025, demonstrates the therapeutic use of a precision…
The secret behind sharp vision
New research reveals the benefits of tiny eye movements Even when we think we are holding our gaze perfectly still, our eyes make tiny, involuntary movements. While these “fixational eye movements” might seem like they would blur our vision, new research reveals they actually help us see fine details more…
Hidden order in the brain’s GPS
For decades, neuroscientists believed that hippocampal place cells – neurons that help create mental maps of our environment – functioned in a simple, uniform way. Recent experiments, however, revealed these cells exhibit far more complex and irregular patterns than previously thought, particularly in large environments. This study, just published in Neuron,…
Three novel disease genes identified as drivers of a new form of hereditary retinal blindness
IOB researchers, working with a broad international team, have identified mutations in three genes encoding subunits of the vesicular AP-5 complex as a new cause of hereditary macular dystrophy, a form of inherited retinal disease (IRD) that leads to progressive vision loss. In this study published in the American Journal…
Uncovering the genetic roots of blindness: A landmark study in Pakistan
A team of researchers from IOB and partner institutions in Pakistan and Switzerland has published the most comprehensive genetic study of inherited retinal diseases (IRDs) in the Pakistani population to date. The study, published in npj Genomic Medicine, analyzed over 700 individuals from 213 families and identified a uniquely distinct mutational…