Stacey, was diagnosed with GTD in December 2024 after going to the doctors with irregular periods. To her surprise, tests showed she was pregnant. Stacey was then given the devastating news that she had cancer.

Read Stacey's inspirational story here: cancertreatment.org.uk/stacey-story/

Interesting story in this preprint.

A male infant was diagnosed with Fanconi anemia due to an X-linked frameshift mutation.

Three years later, his hematopoiesis became normal (without intervention). How?

www.medrxiv.org/content/10.1...

An Interview with Azim Surani

Ashley Moffett and @geraldinejowett.bsky.social spoke to Azim, recipient of both the 2025 Kyoto Prize and 2026 Paul Ehrlich and Ludwig Darmstaedter Prize, about his non-traditional and inspirational route into academia:

journals.biologists.com/dev/article/...

Interested in using your computational biology skills to advance understanding of rare tumours and identify biomarkers that will lead to personalised medicine? We have a postdoctoral position open to analyse a unique group of tumours that arise from the placenta.
www.imperial.ac.uk/jobs/search-...

In these dark times, it comes as a rare pleasure to highlight @natanaels.bsky.social ‬ & @marcdemanuel.bsky.social's work on germline and somatic mutations in humans. 1/n
www.biorxiv.org/cgi/content/...

While helping out on a cool genomics project recently, I came to realise I’d been taught a pretty big inaccuracy about the events that occur at fertilization. I suspect that almost everyone reading this has the same misapprehension, so let’s do some learning together: 1/

Nice work @educalpena.bsky.social

This is an amazing talk on the role of somatic mutation and repeat expansion in an inherited genetic disease

Remember when you first learned about genetics at school? All those fascinating examples of human traits that are each apparently determined by just a single gene? Time to check in on some of your favourites to see how they’re doing. 🧬🧵🧪 1/n

Long-read sequencing of large pedigrees is an ideal way to map all classes of denovo mutations! A collaboration between University of Utah, University of Washington, and PacBio. Glad to be a part of this project 👏

www.nature.com/articles/s41...

Delete your 23&Me data.

A bankrupt company is at risk of losing control over what happens to its assets. If your genome is such an asset, your genome could end up somewhere you would never have agreed to in the first place,

We are hiring! 3-year BBSRC-funded postdoc position available. TEs, epigenetics, pregnancy: if you love one or more of these keywords, apply through the link below.
Please spread the word.

Very proud of my grad students for putting together this comprehensive review on cell-free placental DNA. We found that reviews on the topic focus on clinical utility. Here we focus on basic science of cell-free placental DNA, what we know and current knowledge gaps
journals.plos.org/plosgenetics...

Most of the talks from our Oct meeting are now online, with a few more to come: www.precisionmedicine.columbia.edu/videos

I was reading about the genetics of ovarian aging, particularly on the link between breast cancer genes and age at menopause. The below plot is from a 2021 study that looked into rare variant associations with age at natural menopause using exome data of 50k women in the UK Biobank. 1/

Our (Turner lab.) latest preprint is out! 🐭🧬We show that sex chromosomes regulate the transcriptional and developmental landscape of the mouse preimplantation embryo.
www.biorxiv.org/content/10.1...

Want to make beautiful scientific figures? Easy!

The NIH released a library of 2000+ free scientific illustrations called *BioArt*.

Check it out! bioart.niaid.nih.gov

#AcademicSky #PsychSciSky 🧠🟦 🧪

go.bsky.app/JrBCuad

Super excited to have this out! 🥳

We identify RNU4-2 as a new neurodevelopmental disorder (NDD) gene. We estimate that variants in an 18 bp region of this non-coding RNA explain ~0.4% of all individuals with NDD 😮

Led by a super talented DPhil student Yuyang Chen 🌟

🧬🖥️