Human geneticist - University of Cambridge and Insmed
Cambridge, UK
Joined January 2012
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Congratulations Giles and team! A wonderful resource
I am excited to share our latest paper @Nature where we construct a hi-res spatial map of the human hypothalamus, the brain region central in appetite control. It is a collaboration between @IMS_MRL @Cambridge_Uni & @MPI_Metabolism
nature.com/articles/s41586-0…
John Perry retweeted
2024 was a year to remember—I became an independent group leader at Changping Laboratory. The journey wasn’t easy, but I’m excited for the challenges ahead. Huge thanks to my amazing mentors, @jrbperry and Ken, for their unconditional support, even after I left the group.
1 week left to apply to join our statistical genetics team at the @IMS_MRL. Junior or senior scientist opportunities available. Please get in touch if you'd like to discuss further jobs.cam.ac.uk/job/47078/
John Perry retweeted
A new Senior Stat Gen role is now available in the @Insmed human genetics team. Apply now!
For this and other roles across multiple experience levels, see:
linkedin.com/feed/update/urn…
Check out these senior data science positions (data manager, stat gen and single cell) if you’re keen to join the @IMS_MRL in Cambridge to help drive forward our science in an exciting and multidisciplinary environment. Happy to chat with anyone interested. Deadline 2nd Aug!
We @IMS_MRL @Cambridge_Uni are looking to significantly expand our computational science capabilities in metabolism & are recruiting 3 senior bioinformaticians. Please contact me for more info. Deadline Aug 2. Please share widely nature.com/naturecareers/job…
John Perry retweeted
We @IMS_MRL @Cambridge_Uni are looking to significantly expand our computational science capabilities in metabolism & are recruiting 3 senior bioinformaticians. Please contact me for more info. Deadline Aug 2. Please share widely nature.com/naturecareers/job…
John Perry retweeted
Well done to Andrew Waters from the lab for delivering our study on saturation editing of BAP1. nature.com/articles/s41588-0…
Thanks for the nice summary of our work @doctorveera
A comprehensive GWAS (800k women) and ExWAS (200k women) of age at menarche, dissecting the genetic architecture of puberty timing across the entire allele frequency spectrum.
Kentistou, Kaisinger et al. Nat Gen
nature.com/articles/s41588-0…
I wrote about this work last year when it was preprinted (teapaw.org/doctorveera/status/167…). It's great to see in the final published form. In this paper, you can find examples for
- common variants (PGS) x rare variants interaction (ZNF483)
- statistical and functional gene x gene interaction (MC3R x GPR83)
And population-level insights on known, presumed Mendelian genes. UK Biobank is the one-stop shop to find healthy carriers of your favorite Mendelian disease genes.
@aikat33 @jrbperry
Kentistou, Kaisinger et al. Nat Gen
nature.com/articles/s41588-0…
This was a great collaboration - many thanks to @Aoxing2 @ZhaoDylan @mitchiela @freeseek82 Po-Ru + many others for fun discussions and a great paper.
New out in Nature!!
With age, women can lose one X chromosome in their leukocytes.
What’s the cause/consequence?
How does it differ from the loss of the Y chromosome in men?
nature.com/articles/s41586-0…
@broadinstitute @FinnGen_FI @FIMM_UH @theNCI @Cambridge_Uni
John Perry retweeted
New out in Nature!!
With age, women can lose one X chromosome in their leukocytes.
What’s the cause/consequence?
How does it differ from the loss of the Y chromosome in men?
nature.com/articles/s41586-0…
@broadinstitute @FinnGen_FI @FIMM_UH @theNCI @Cambridge_Uni
John Perry retweeted
Great to see is out in @medrxivpreprint ! We systematically explored how rare coding variants affect BMI and T2D using new-released UK Biobank WGS data and replicated our findings in All of Us cohort. medrxiv.org/content/10.1101/…
John Perry retweeted
AOP #ResearchHighlight: a new study identifies genes associated with adult-onset #obesity (£) go.nature.com/3JAdy1m
@jrbperry @GilesYeo @zhaodylan @IMS_MRL @MRC_epid
Wonderful to see this out - many thanks to everyone involved in this great team effort.
Rare gene variants identified by @ZhaoDylan and @The_MRC colleagues have the largest impacts on obesity risk discovered to date.
The BSN & APBA1 variants are among the first for which increased risk of obesity isn't observed until adulthood.
mrc-epid.cam.ac.uk/blog/2024…
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Great to celebrate this on #InternationalWomensDay and important to point out this success wouldn’t be possible without the work of @AnnaM1966 and @EvaHoffmannLab who I’ve enjoyed working with for many years now.
On #InternationalWomensDay @wellcometrust invests £5.6 million in the HERA study to better understand women's reproductive health.
News at: mrc-epid.cam.ac.uk/blog/2024…
HERA is lead by scientists @Cambridge_Uni, @UniofExeter, @UCPH_Research and @imperialcollege
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Great to work on this with @StankovicStasa @AnnaM1966 and others. Pretty sobering however how little we could reproduce from the POI clinical genetics literature. A lot of change needed in that field to avoid spurious genetic diagnoses being given to women.
Using exome sequencing data from post-menopausal women in the UK Biobank, an analysis of 105 gene variants previously reported as associated with premature ovarian insufficiency reveals that most cases are not monogenic @AnnaM1966 @jrbperry
nature.com/articles/s41591-0…
John Perry retweeted
We have an exciting new position in Exeter (@exetermed) for a Professor of Human Genomics. More information here tinyurl.com/mt7wjkft or come and find me or any of the 20 or so Exeter folk at @eshgsociety meeting in Glasgow #ESHG2023
Looking forward to #eshg2023 please drop me a msg if you’re going and keen to meet up science folks!