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ProgRET

@progret2024.bsky.social

European Training Program for 10 brilliant PhD students to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases

12 Posts36 Follower91 Folgt
ProgRET@progret2024.bsky.social · 5mo ago

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.

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ProgRET@progret2024.bsky.social · 5mo ago

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.

Amy Feldman@amyfeldman7.bsky.social · 6mo ago

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...

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...

forbes.com

Cell Reports@cp-cellreports.bsky.social · 6mo ago

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

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.

dlvr.it

Springer Nature@springernature.com · 7mo ago

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. 🌟

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."
Doudna Lab@doudna-lab.bsky.social · 7mo ago

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...

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...

biorxiv.org

Nature@nature.com · 7mo ago

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

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.

go.nature.com

@ukeyegeneticsgroup.bsky.social · 7mo ago

🚨 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

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ProgRET@progret2024.bsky.social · last yr.

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 !

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ProgRET@progret2024.bsky.social · 2y ago

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!

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