Dr Jenny Lord
@drjennylord.bsky.social
Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs.
Pinned
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!
Reposted by 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 🧵👇
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 11:46 AM
🚨 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 🧵👇
We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬
See 🧵👇
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...
www.jobs.ac.uk/job/DNR261/r...
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.
www.jobs.ac.uk
July 15, 2025 at 11:04 AM
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...
www.jobs.ac.uk/job/DNR261/r...
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...
www.jobs.ac.uk/job/DNR261/r...
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.
www.jobs.ac.uk
July 2, 2025 at 12:27 PM
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...
www.jobs.ac.uk/job/DNR261/r...
Reposted by Dr Jenny Lord
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 🧵):
link.springer.com/article/10.1...
Key points (A 🧵):
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...
link.springer.com
April 14, 2025 at 5:43 PM
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 🧵):
link.springer.com/article/10.1...
Key points (A 🧵):
Reposted by Dr Jenny Lord
📢 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
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
April 7, 2025 at 8:42 AM
📢 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
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
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!
April 7, 2025 at 10:12 AM
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!
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...
www.findaphd.com/phds/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 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...
www.findaphd.com
February 26, 2025 at 9:05 AM
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...
www.findaphd.com/phds/project...
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
https://rdcu.be/d1rI4
t.co
November 26, 2024 at 10:39 AM
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
Reposted by Dr Jenny Lord
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 🖥️🧬
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 🖥️🧬
November 15, 2024 at 10:30 AM
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 🖥️🧬
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 🖥️🧬
Reposted by Dr Jenny Lord
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
bsky-follow-finder.theo.io
Bluesky Network Analyzer
Find accounts that you don't follow (yet) but are followed by lots of accounts that you do follow.
bsky-follow-finder.theo.io
November 12, 2024 at 10:51 PM
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
bsky-follow-finder.theo.io