ProgRET

Jennifer Doudna’s $1 Billion Plan To Bring Gene Editing To The Masses Crispr’s ability to cut genetic code like scissors has just started to turn into medicines. Now, gene editing pioneer Jennifer Doudna wants to build an entire ecosystem to bring these treatments mains...

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 Wang, Li, et al. apply a multi-omic framework to human retinal pigment epithelium and choroid, the earliest tissues affected in age-related macular degeneration. Using a combination of single-cell transcriptomics, single-cell epigenomics, enhancer mapping, and functional testing, they evaluate nearly 2,000 variants linked to this disease and nominate dozens as pathogenic.

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

Precise RNA targeting with CRISPR–Cas13d - Nature Biotechnology Careful selection of Cas13 variants and delivery methods minimizes collateral RNA degradation.

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...

Cause of vision loss discovered in overlooked genes Non-protein-coding genes have been linked to a hereditary condition, retinitis pigmentosa, that causes progressive blindness.

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 A new in vivo genome-editing system.

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

Springer Nature post on the birthday of Sofia Kovalevskaya, with a fun fact "Did you know? Sofia Kovalevskaya was not only a groundbreaking mathematician but also a novelist and advocate for women’s education. Her work opened doors for women in academia across Europe", and a quote by her: "It is impossible to be a mathematician without being a poet in soul."

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. 🌟

Stepwise DNA unwinding gates TnpB genome-editing activity TnpB is a compact RNA-guided endonuclease and evolutionary ancestor of CRISPR-Cas12 that offers a promising platform for genome engineering. However, the genome-editing activity of TnpBs remains limit...

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

Christopher Inglehearn, Kinga M. Bujakowska, Carmen Ayuso, Sandro Banfi, Vasiliki Kalatzis, Susanne Kohl and David Stanek

Our fellows and partners: Stefanida Shliaga (DC6), Nelson Martins (DC5) @nelsonm1224.blky.social, Susanne Roosing @susanneroosing.bsky.social, Carlo Rivolta @carlorivolta.bsky.social, Elfriede De Barre @elfridedebaere.bsky.social, Miriam Bauwens, Alison Hardcastle @hardcastlelab.bsky.social

Title and authors of a paper

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

Bidirectional CRISPR screens decode a GLIS3-dependent fibrotic cell circuit - Nature Integrated single-cell and spatial data analysis, combined with bidirectional CRISPR screens, identify the transcription factor GLIS3 as a key driver of chronic inflammation and fibrosis and a potential marker of disease severity in patients with ulcerative colitis.

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

The top US health director who stood up for science — and was fired Susan Monarez is part of Nature’s 10, a list of people who shaped science in 2025.

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!