Nicky Whiffin
@nickywhiffin.bsky.social
Associate Professor @ Big Data Institute, University of Oxford
2024 Lister Institute Fellow
genomics | rare disease | gene regulation | genetic therapies
https://rarediseasegenomics.org/
(field) hockey player | cyclist | hiker
2024 Lister Institute Fellow
genomics | rare disease | gene regulation | genetic therapies
https://rarediseasegenomics.org/
(field) hockey player | cyclist | hiker
Pinned
Nicky Whiffin
@nickywhiffin.bsky.social
· Apr 11
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
www.medrxiv.org
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
www.medrxiv.org/content/10.1...
A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺
🧵1/12
Reposted by Nicky Whiffin
Congratulations @hilarycmartin.bsky.social from @sangerinstitute.bsky.social on being awarded the 2026 Balfour Lecture!
November 14, 2025 at 12:35 PM
Congratulations @hilarycmartin.bsky.social from @sangerinstitute.bsky.social on being awarded the 2026 Balfour Lecture!
Reposted by Nicky Whiffin
Our latest paper has just been published in Cell!
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
November 5, 2025 at 5:20 PM
Our latest paper has just been published in Cell!
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
Reposted by Nicky Whiffin
Not from Tron or a psychedelic wallpaper. This exquisite pic reveals chromatin at base-pair resolution, captured by #ListerFellow James Davies and collaborators🤩
"For the first time, we can see how the genome's control switches are physically arranged inside cells." @jojdavies.bsky.social
"For the first time, we can see how the genome's control switches are physically arranged inside cells." @jojdavies.bsky.social
November 5, 2025 at 4:50 PM
Not from Tron or a psychedelic wallpaper. This exquisite pic reveals chromatin at base-pair resolution, captured by #ListerFellow James Davies and collaborators🤩
"For the first time, we can see how the genome's control switches are physically arranged inside cells." @jojdavies.bsky.social
"For the first time, we can see how the genome's control switches are physically arranged inside cells." @jojdavies.bsky.social
Feeling exhausted after a fantastic but (as always) full-on #ashg25 . Great to catch-up with so many folks!
So long Boston, for a little while at least...
So long Boston, for a little while at least...
October 18, 2025 at 8:53 PM
Feeling exhausted after a fantastic but (as always) full-on #ashg25 . Great to catch-up with so many folks!
So long Boston, for a little while at least...
So long Boston, for a little while at least...
Planning your afternoon poster session at #ashg25? Come say hello!
This is an amalgamation of our two recent preprints - working with @gregfindlay.bsky.social , @cassimons.bsky.social , @dgmacarthur.bsky.social and many others to study variation across RNU4-2 and describe a new recessive NDD 🧬
This is an amalgamation of our two recent preprints - working with @gregfindlay.bsky.social , @cassimons.bsky.social , @dgmacarthur.bsky.social and many others to study variation across RNU4-2 and describe a new recessive NDD 🧬
October 16, 2025 at 2:55 PM
Planning your afternoon poster session at #ashg25? Come say hello!
This is an amalgamation of our two recent preprints - working with @gregfindlay.bsky.social , @cassimons.bsky.social , @dgmacarthur.bsky.social and many others to study variation across RNU4-2 and describe a new recessive NDD 🧬
This is an amalgamation of our two recent preprints - working with @gregfindlay.bsky.social , @cassimons.bsky.social , @dgmacarthur.bsky.social and many others to study variation across RNU4-2 and describe a new recessive NDD 🧬
Reposted by Nicky Whiffin
If you’re applying to your dream lab for an internship/PhD/postdoc, always send a second email 1-2 weeks after the first one if you don’t hear back.
I promise we will be grateful rather than annoyed. My email inbox is a disaster and I’m quite junior - and very few of us have secretarial support
I promise we will be grateful rather than annoyed. My email inbox is a disaster and I’m quite junior - and very few of us have secretarial support
October 4, 2025 at 5:47 AM
If you’re applying to your dream lab for an internship/PhD/postdoc, always send a second email 1-2 weeks after the first one if you don’t hear back.
I promise we will be grateful rather than annoyed. My email inbox is a disaster and I’m quite junior - and very few of us have secretarial support
I promise we will be grateful rather than annoyed. My email inbox is a disaster and I’m quite junior - and very few of us have secretarial support
Reposted by Nicky Whiffin
In reporting this piece on the new trial for a Huntington's treatment, I was struck by one thing in particular:
The joy.
One of my sources wept for joy. He has spent his entire career studying this disease, he said it was the happiest day. www.sciencenews.org/article/hunt...
The joy.
One of my sources wept for joy. He has spent his entire career studying this disease, he said it was the happiest day. www.sciencenews.org/article/hunt...
Huntington's progression slowed by experimental gene therapy
An experimental gene therapy slowed Huntington’s by up to 75 percent in a small clinical trial. While not a cure, it may give patients longer lives.
www.sciencenews.org
September 26, 2025 at 5:58 PM
In reporting this piece on the new trial for a Huntington's treatment, I was struck by one thing in particular:
The joy.
One of my sources wept for joy. He has spent his entire career studying this disease, he said it was the happiest day. www.sciencenews.org/article/hunt...
The joy.
One of my sources wept for joy. He has spent his entire career studying this disease, he said it was the happiest day. www.sciencenews.org/article/hunt...
Reposted by Nicky Whiffin
We now have an open post-doc position in the lab:
crick.wd3.myworkdayjobs.com/External/job...
Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.
crick.wd3.myworkdayjobs.com/External/job...
Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.
crick.wd3.myworkdayjobs.com
September 8, 2025 at 2:59 PM
We now have an open post-doc position in the lab:
crick.wd3.myworkdayjobs.com/External/job...
Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.
crick.wd3.myworkdayjobs.com/External/job...
Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.
While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
www.medrxiv.org
September 8, 2025 at 8:43 AM
While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy
🧵 by the amazing @christeldepienne.bsky.social 👇
1/3
So proud of two postdocs in the team @alextremophile.bsky.social and @ruebenadawes.bsky.social. My role here was one of 'chief cheerleader' with this work truly led by these two superstars 🤩
The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more.
🧬💻🩺
The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more.
🧬💻🩺
I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores”
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores
Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...
www.medrxiv.org
August 29, 2025 at 9:32 AM
So proud of two postdocs in the team @alextremophile.bsky.social and @ruebenadawes.bsky.social. My role here was one of 'chief cheerleader' with this work truly led by these two superstars 🤩
The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more.
🧬💻🩺
The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more.
🧬💻🩺
Reposted by Nicky Whiffin
1st Bluesky post with recent updates:
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
August 26, 2025 at 3:59 AM
1st Bluesky post with recent updates:
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
1/3 It was incredible to attend and speak at the ReNU Hope Conference in Long Island, NY. This was the first time I met the families and the ReNU warriors, sharing many touching stories. I hope to continue advocacy in China where few are currently diagnosed.
👋
Word of the Day is ‘theic’ (19th century), defined as ‘one given to immoderate tea-drinking; a tea drunkard’.
August 21, 2025 at 10:08 AM
👋
Just over a week left to apply for these positions - deadline on Thursday 28th August 👇
📣 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
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
August 20, 2025 at 11:17 AM
Just over a week left to apply for these positions - deadline on Thursday 28th August 👇
Reposted by Nicky Whiffin
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
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
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 (...
www.medrxiv.org
August 18, 2025 at 7:33 AM
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
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
Isn't genetics cool???
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
August 18, 2025 at 2:03 PM
Isn't genetics cool???
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
Within only 145 nucleotides(!) of a non-coding RNA (RNU4-2) - different variants in distinct regions / structures cause three distinct disorders!!! (all discovered within the last 18 months)
🤯🤓🧬❤️
🚨 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 🧵👇
Reposted by Nicky Whiffin
📣 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
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
July 31, 2025 at 4:12 PM
📣 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
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
Reposted by Nicky Whiffin
Great career opportunities in Cellular Genomics @sangerinstitute.bsky.social
Big data (human in vivo + in vitro) + AI to derive biological mechanisms at scale.
We are seeking a range of research expertise including spatial omics and perturbation at scale
Big data (human in vivo + in vitro) + AI to derive biological mechanisms at scale.
We are seeking a range of research expertise including spatial omics and perturbation at scale
Group leader positions in @sangerinstitute.bsky.social Cellular Genomics, led by @mhaniffa.bsky.social, to decode and recode human tissues. Broad net - clinical research, in vitro models, single cell, AI. Vibrant, supportive community. Please share!
sanger.wd103.myworkdayjobs.com/en-GB/Wellco...
sanger.wd103.myworkdayjobs.com/en-GB/Wellco...
August 1, 2025 at 11:02 AM
Great career opportunities in Cellular Genomics @sangerinstitute.bsky.social
Big data (human in vivo + in vitro) + AI to derive biological mechanisms at scale.
We are seeking a range of research expertise including spatial omics and perturbation at scale
Big data (human in vivo + in vitro) + AI to derive biological mechanisms at scale.
We are seeking a range of research expertise including spatial omics and perturbation at scale
📣 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
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
July 31, 2025 at 4:12 PM
📣 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
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
Last week was the first #ReNUhopeConference
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
July 28, 2025 at 9:03 AM
Last week was the first #ReNUhopeConference
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
Reposted by Nicky Whiffin
Deadline extended to August 1st!
Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!
Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!
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!
More info here: bit.ly/biomedDPhil
🗓️ App deadline: June 30th 2025.
Please share!
Research Studentships | statistics
bit.ly
July 21, 2025 at 11:39 AM
Deadline extended to August 1st!
Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!
Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!
Can you help???
The amazing families with ReNU syndrome are fundraising to set up a charity registered in the UK. They need £5k to do this.
Please donate here if you can (any amount will help!): www.gofundme.com/f/set-up-the...
Thank you!!!
@renucrew.bsky.social @uniquecharity.bsky.social
The amazing families with ReNU syndrome are fundraising to set up a charity registered in the UK. They need £5k to do this.
Please donate here if you can (any amount will help!): www.gofundme.com/f/set-up-the...
Thank you!!!
@renucrew.bsky.social @uniquecharity.bsky.social
Donate to Help us to set up the ReNU Syndrome UK Charity, organized by Claire Stockton
Hi I’m Claire mum to Finley who is 19 years old and recently diagnos… Claire Stockton needs your support for Help us to set up the ReNU Syndrome UK Charity
www.gofundme.com
July 16, 2025 at 2:45 PM
Can you help???
The amazing families with ReNU syndrome are fundraising to set up a charity registered in the UK. They need £5k to do this.
Please donate here if you can (any amount will help!): www.gofundme.com/f/set-up-the...
Thank you!!!
@renucrew.bsky.social @uniquecharity.bsky.social
The amazing families with ReNU syndrome are fundraising to set up a charity registered in the UK. They need £5k to do this.
Please donate here if you can (any amount will help!): www.gofundme.com/f/set-up-the...
Thank you!!!
@renucrew.bsky.social @uniquecharity.bsky.social
Reposted by Nicky Whiffin
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...