Discover our PhD projects 👩🏻‍🔬 🎥 This month: Kobe Outtier (DC10) She grows mini retinas from patient cells—also known as retinal organoids—to study CRX-related inherited retinal diseases. 📍 Institute for Neurosciences of Montpellier #MSCA #InheritedRetinalDisease #ScienceCommunication #Organoids #PhD

On Rare Disease Day, we highlight the global impact of rare conditions. More than 6,000 rare diseases have been identified, together affecting 300 million people worldwide. Among them are inherited retinal diseases (IRDs), which affect about 1 in 3,000 people.

New series launch: discover our PhD projects🚀Curious what ProgRET is all about? Every month, one of our doctoral candidates is explaining their project in a short video. This is Sofia Manzo's (DC1) month🐟Look at her exciting work at the Andalusian Centre for Developmental Biology in Seville, Spain.

NEW for @forbes.com: Nobel Prize winner Jennifer Doudna’s plan to create a gene editing ecosystem to solve major problems in medicine, agriculture and climate. “I don’t want it to be a curio, a topic of academic interest,” she says. www.forbes.com/sites/amyfel...

Meet Elfride De Baere, Head of Clinic at Ghent University Hospital’s Center for Medical Genetics. She shares why PacBio long-read sequencing + a multiomic approach (genomics + transcriptomics) can help deliver clearer insights for families. #WeCareForRare #RareDiseaseMonth #GeneticEyeDisease

Single-cell multiome and enhancer connectome of human retinal pigment epithelium and choroid nominate causal variants in macular degeneration

Careful selection of Cas13 variants and delivery methods minimizes collateral RNA degradation go.nature.com/4gEn95x rdcu.be/eZ8CF

🚀 New preprint! @jacobsenucla.bsky.social x @doudna-lab.bsky.social collaboration: High-activity TnpB (Ymu1-WFR) + a multi-gRNA system in TRV enables heritable, tissue-culture-free multiplex editing in plants. Big potential for plant biotech 🧬🌾🌱 doi.org/10.64898/202...

Variants in five genes have been found to cause hereditary gradual blindness go.nature.com/4b6yhsJ

This CRISPR system edits DNA on a much bigger scale #NBTintheNews via @techexplorist.bsky.social www.techexplorist.com/crispr-syste...

Born #OnThisDay in 1850, Sofia Kovalevskaya became the first woman in Europe to earn a doctorate in mathematics and a pioneer in analysis and partial differential equations. Join us in celebrating her brilliance and perseverance. 🌟

New preprint 👉Doudna x Bryant x Jacobsen x Savage collaboration! Work led by @zehanzhou.bsky.social, I. Saffarian-Deemyad, @honglue.bsky.social, T. Weiss We dissect how stepwise DNA unwinding gates TnpB genome editing, revealing how unwound DNA states enhance cleavage www.biorxiv.org/content/10.6...

Targeted delivery of genome editors in vivo - @doudna-lab.bsky.social @innovativegenomics.bsky.social go.nature.com/4qKp6Tb

New paper out in @natgenet.nature.com identifying a novel role for RNU non-coding genes in retinitis pigmentosa. Congrats to the ProgRET fellows and partners on this excellent work! #MSCA #DoctoralNetwork #Vision #Genetics #ScienceCommunication www.nature.com/articles/s41...

Ready for your next step to your future in genomics? Applications for the ASHG-NHGRI Post-Baccalaureate Genomics Analyst Fellowship are OPEN—submissions close Feb 1! Gain in-depth experience, learn from field leaders, and influence progress in #humangenetics research. Apply now: bit.ly/44WDkbq #ASHG

Nature research paper: Bidirectional CRISPR screens decode a GLIS3-dependent fibrotic cell circuit go.nature.com/45m7t4b

Accessible genomics training = career growth + representative workforce Join our Jan 27 webinar to learn how education opens doors for paraprofessionals and builds a better workforce. Register now: https://bit.ly/3Kvl4Pg #ASHG #HumanGenetics #GeneticsEducation

New international collaborative work (incl us) just out in @natgenet.nature.com showing how dominant variants in RNU genes like RNU4-2 can also cause Retinitis Pigmentosa Mathieu Quinodoz, Kim Rodenburg, Susanne Roosing, @carlorivolta.bsky.social & many others www.nature.com/articles/s41...

🧬 Major breakthrough: IOB researchers identify new genetic cause of inherited blindness in overlooked RNA genes. The discovery solves decades-old diagnostic mystery and opens new pathways for many patients worldwide. ➡️ www.nature.com/articles/s41... #AcademicBlueSky #Genetics #VisionResearch #IRDs

🚨 GRANT CALL FOR INHERITED RETINAL DISEASE RESEARCH🚨 💰 (£250,000 to £300,000 over 2 - 3 years) 👁️ Funding body: @RetinaUK 📑 Subject: Causes & treatments for inherited retinal diseases 🖥️ More info & application form: tinyurl.com/4c6rtk3a. 📅 Deadline 1 April 2026

Susan Monarez was hired and then quickly fired as head of the US Centers for Disease Control and Prevention this year. She’s part of the 2025 Nature’s 10. 🧪

In autosomal dominant inheritance, just one defective gene can cause a condition. Key mechanisms: Dominant Negative: Faulty protein disrupts the normal one. Gain of Function: Mutant protein gains toxic function. Haploinsufficiency: One copy isn’t enough for normal function. Stay tuned for more !

New journey, new beginning! Welcome on board! Let's make this adventure amazing!💫

Autosomal dominant IRD accounts for 25-40% of cases, posing challenges due to variable phenotypes, milder forms, and later onset. Mutations are categorized as gain-of-function, dominant-negative, or haploinsufficiency. Stay tuned as we explore these mechanisms further!