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!