*A new pre-print on increasing gene expression!* 🧬📈 doi.org/10.64898/202...

Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease

Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies ...

doi.org

What do we mean by "actionability" in genomic medicine? An important question as we think more about using genomes for screening as well as diagnosis... read our new paper @gimjournal.bsky.social, authors.elsevier.com/a/1mBYc3vlFV...

I wrote about how genetic risk works in the context of embryo selection and how people often think about it all wrong. A short 🧵:

What we talk about when we talk about risk

How embryo selection exploits our flawed intuitions about risk

open.substack.com

📣 We are recruiting! Please share!! Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺 We have two roles available 👇 🧵 1/4

New preprint! We solve a mystery you didn't know existed. Mitotic cells lack new transcription but require ongoing translation. Interphase mRNA half life is only 2-4 hrs. So how do cells arrest in mitosis for hours without depleting their transcriptomes? www.biorxiv.org/content/10.1...

Global inhibition of deadenylation stabilizes the transcriptome in mitotic cells

In the presence of cell division errors, mammalian cells can pause in mitosis for tens of hours with little to no transcription, while still requiring continued translation for viability. These unique...

biorxiv.org

Deadline extended to August 1st! Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!

Duncan Palmer@astheeggeggs.bsky.social · last yr.

Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: bit.ly/biomedDPhil 🗓️ App deadline: June 30th 2025. Please share!

Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...

The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics

European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review

nature.com

Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: bit.ly/biomedDPhil 🗓️ App deadline: June 30th 2025. Please share!

Delighted to see my phenomenal phd supervisor get recognition for the all round fab scientist and super powerhouse she is! Go Nicky 🤩🥰

Genetics Society UK@gensocuk.bsky.social · 2y ago

Congratulations to @nickywhiffin.bsky.social on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture! genetics.org.uk/medals-and-p...

As a recent graduate of a DPhil in Oxford could not recommend it more highly! Check these out and apply 😊

Nicky Whiffin@nickywhiffin.bsky.social · 2y ago

It's PhD application season here in Oxford with two weeks until the deadlines (3rd Dec) @universityofoxford.bsky.social Here is a short 🧵 highlighting 3 amazing programs in the genomics, data science, statistics space 🩺🖥️🧬 Please share with anyone you think would be interested! 1/4