Christina Kajba
@ckajba.bsky.social
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Doctoral Clinical Fellow in the Genome Function Laboratory @TheCrick
reposted by
Christina Kajba
Nicky Whiffin
about 2 months ago
Super excited that our two companion papers on saturation genome editing (SGE) of RNU4-2 and discovery of a novel recessive neurodevelopmental disorder (NDD) were published yesterday 🥳 SGE experiment:
www.nature.com/articles/s41...
Recessive NDD characterisation:
www.nature.com/articles/s41...
🧵
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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders - Nature
Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.
https://www.nature.com/articles/s41586-026-10334-9
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reposted by
Christina Kajba
Greg Findlay
4 months ago
Our latest story is now on bioRxiv. We present PETRA, a new method for deciphering how sequence variants impact gene regulation at scale.
www.biorxiv.org/content/10.1...
This work was led by Magdalena Armas Reyes, a
@crick.ac.uk
PhD student until very recently. Congrats, Dr. Armas! 🧵 1/9
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https://www.biorxiv.org/content/10.1101/2025.11.18.689114v2
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reposted by
Christina Kajba
The Francis Crick Institute
9 months ago
Congratulations to
@gregfindlay.bsky.social
on being awarded a €1.5 million Starting Grant from the
@erc.europa.eu
to take a closer look at possible disease variants hiding in the dark genome.
www.crick.ac.uk/news/2025-09...
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€1.5 million to uncover disease risk hiding in non-coding DNA
Greg Findlay, Group Leader of the Genome Function Laboratory at the Francis Crick Institute, has been awarded a Starting Grant from the European Research Council for €1.5 million to take a deep dive i...
https://www.crick.ac.uk/news/2025-09-04_eu15-million-to-uncover-disease-risk-hiding-in-non-coding-dna
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Looking forward to the Variant Effects Seminar tomorrow!
@michaelherger.bsky.social
and I will present our pooled prime editing platform for high-throughput variant screening.
add a skeleton here at some point
9 months ago
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reposted by
Christina Kajba
Greg Findlay
10 months ago
Our latest research is out today on @medrxivpreprint.bsky.social:
www.medrxiv.org/content/10.1...
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk. Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n
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Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk
Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...
https://www.medrxiv.org/content/10.1101/2025.08.11.25333423v1
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reposted by
Christina Kajba
Greg Findlay
12 months ago
Check out
@ckajba.bsky.social
and Michael Herger's concise description of their recent work. Thanks to Nature Reviews Genetics for featuring this.
rdcu.be/eraxZ
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Determining variant effects with pooled prime editing
Nature Reviews Genetics - In this Tools of the Trade article, Christina Kajba and Michael Herger describe their screening platform, based on pooled prime editing, for large-scale functional...
https://rdcu.be/eraxZ
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