Dr Jenny Lord

🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️

We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬

See 🧵👇

18.08.2025 11:46 — 👍 26    🔁 8    💬 0    📌 0

Research Associate - SITraN at University of Sheffield Apply for the Research Associate - SITraN role on jobs.ac.uk, the top job board for academic positions in higher education. View details and apply now.

Just over a week until our postdoc recruitment closes. If you want to use big datasets and computational methods to understand how the genome works and how that goes wrong in disease, apply!
www.jobs.ac.uk/job/DNR261/r...

15.07.2025 11:04 — 👍 1    🔁 3    💬 0    📌 0

Research Associate - SITraN at University of Sheffield An opportunity for an academic position as a Research Associate - SITraN is available, as advertised on jobs.ac.uk. Apply now and explore other academic job openings.

We're hiring! We're looking for a computational postdoc to join an exciting new project looking for splicing and non-coding regulatory elements using large 'omics datasets, and investigating how their disruption might lead to common and rare disease
www.jobs.ac.uk/job/DNR261/r...

02.07.2025 12:27 — 👍 0    🔁 0    💬 0    📌 0

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease - Genome Medicine Background Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpre...

I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!!

link.springer.com/article/10.1...

Key points (A 🧵):

14.04.2025 17:43 — 👍 19    🔁 8    💬 1    📌 1

Three people wearing lab coats and talking to each other while writing on a whiteboard

📢 We're making our largest ever investment in early-career researchers

Through #Springboard25, we’re investing £7.6m in 62 researchers to drive innovations that improve health and wellbeing 🔬

Congrats to all 2025 awardees! 🎉

👉 bit.ly/springboard2...

@thebhf.bsky.social @wellcometrust.bsky.social

07.04.2025 08:42 — 👍 49    🔁 14    💬 2    📌 9

Thrilled to have been awarded one of the @acmedsci.bsky.social #Springboard25 awards to support my work using big datasets to investigate splicing and gene regulatory elements and how variants in them cause disease. I will be recruiting a postdoc soon!

07.04.2025 10:12 — 👍 5    🔁 0    💬 1    📌 0

SCYPHeR: Rare Disease and Health Inequalities Theme: Improving diagnosis and treatment options for children in South Yorkshire with rare, undiagnosed diseases by mining genomics data and correlating w... PhD Project - SCYPHeR: Rare Disease and Health Inequalities Theme: Improving diagnosis and treatment options for children in South Yorkshire with rare, undiagnosed diseases by mining genomics data and...

Fully funded PhD studentship at Sheffield Uni - investigating novel causes of rare disease using bioinformatics and big data sets! Application deadline 28th March. @sheffielduni.bsky.social @fohsheffield.bsky.social @scypherofficial.bsky.social
www.findaphd.com/phds/project...

26.02.2025 09:05 — 👍 4    🔁 2    💬 0    📌 0

https://rdcu.be/d1rI4

New paper out in EJHG making new diagnoses and identifying candidate disease genes in individuals with congenital heart disease t.co/9A4IFSABzU - fab collaboration to be a part of - led by Verity Hartill using data from the 100,000 Genomes Project

26.11.2024 10:39 — 👍 5    🔁 1    💬 0    📌 1

Snowy garden inc. small dog

Snow!

19.11.2024 08:00 — 👍 4    🔁 0    💬 0    📌 0

I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw

Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.

#ClinicalInformatics #genomics #bioinformatics 🖥️🧬

15.11.2024 10:29 — 👍 155    🔁 46    💬 38    📌 5

Bluesky Network Analyzer Find accounts that you don't follow (yet) but are followed by lots of accounts that you do follow.

My app for finding 🦋 accounts you may want to follow has had a make-over: it now displays names and bios, and allows adding an "app password" for direct follow buttons in the listing

bsky-follow-finder.theo.io

12.11.2024 22:51 — 👍 621    🔁 260    💬 96    📌 75