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Kartik Chundru @chundru.bsky.social · Sep 9

Really cool work from @jacquesml.bsky.social and @kash-a-patel.bsky.social 🥳
24% common variant heritability for a rare disease (MODY)!
This very elegantly shows the overlap between MODY and T2D, and hints at some potential MODY phenocopies

Jacques Murray Leech @jacquesml.bsky.social · Sep 9

Now out in @natmetabolism.nature.com! Excited to share our work showing how common genetic changes shape how diabetes presents in MODY (Maturity-Onset Diabetes of the Young). Our findings highlight the growing overlap between monogenic and polygenic forms of diabetes.

www.nature.com/articles/s42...

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes - Nature Metabolism

In clinical and population-based cohorts, a strong contribution of polygenic risk for type 2 diabetes (T2D) significantly modifies the onset and phenotypic variability of maturity-onset diabetes of th...

www.nature.com

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Reposted by Kartik Chundru

Jacques Murray Leech @jacquesml.bsky.social · Aug 11

New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics

medRxivpreprint @medrxivpreprint.bsky.social · Aug 9

Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1

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Reposted by Kartik Chundru

Nechama Wieder @nechamawieder.bsky.social · Jul 4

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

www.nature.com

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Reposted by Kartik Chundru

SickKids Cardiac Precision Medicine @skcardprecisionmed.bsky.social · Jun 27

⌛Just over a week left!

Submit your abstract for the Cardiac Precision Medicine in the 21st Century Conference 🫀

📅 Oct 29–31, 2025 | Toronto

Showcase your research + compete for Best Abstract Award!
🔗 cardiacprecisionmedicine.com

#CardiacPrecision #Genomics #callforabstracts

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Reposted by Kartik Chundru

Žiga Avsec @avsecz.bsky.social · Jun 25

Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind

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Reposted by Kartik Chundru

Aparajita Sriram @aparajita-sriram.bsky.social · Jun 4

Excited to share the preprint of our paper (my first paper!) looking at limited evidence MODY genes. We use rare variant burden testing and one of the largest MODY cohorts to evaluate the pathogenicity of these genes. This evidence can help inform clinical guidelines in MODY genetic testing!

medRxivpreprint @medrxivpreprint.bsky.social · May 8

NEUROD1 and PDX1 are low penetrance causes of MODY while rare variants in APPL1 and WFS1 are not associated with MODY https://www.medrxiv.org/content/10.1101/2025.05.07.25327066v1

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Reposted by Kartik Chundru

Caroline Wright @carolinefwright.bsky.social · May 27

Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)

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Reposted by Kartik Chundru

Dr Gareth Hawkes @drghawkes.bsky.social · May 27

Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25

Caroline Wright @carolinefwright.bsky.social · May 27

Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)

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Kartik Chundru @chundru.bsky.social · May 26

I missed Hyung Chul’s poster! I’ll have to go see it later today

Reposted by Kartik Chundru

Nicky Whiffin @nickywhiffin.bsky.social · May 26

The team have all done their job beautifully #proudPI - now it is my turn.

Join us in the late breaking session to hear about collaborative work with @gregfindlay.bsky.social on saturation genome editing of RNU4-2 (at 11:30).

You will also get to hear the awesome @chundru.bsky.social!

#eshg2025

Nicky Whiffin @nickywhiffin.bsky.social · May 24

It's #eshg2025 #eshg25 time 🥳

Here is where you can catch the team over the next few days.

Please go and say hi!

A flyer advertising four talks and one poster:
Yuyang Chen - 11:30am Saturday 24th; talk (C01) - De novo variants in small open reading frames harbour new rare disease diagnoses
Anthony McGuigan - 6:45pm Saturday 24th; talk (C09) - Gene knockouts across 120,404 individuals for novel rare disease gene discovery
François Lecoquierre - 7:15pm Saturday 24th; talk (C09) - A map of predicted pseudoexons in human genes
Hyung Chul Kim - 1pm Sunday 25th; poster (P18.006.A) - Rare variant association study reveals small open reading frames (smORFs) as novel regulators of cardiometabolic diseases
Nicky Whiffin - 10:30am Monday 26th; talk (C29) - Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

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Reposted by Kartik Chundru

Caroline Wright @carolinefwright.bsky.social · May 26

At #ESHG25, make sure to hear the fantastic @chundru.bsky.social speak about characterizing genome-wide de novo mutations in control populations versus rare disease cases (Monday 11:15, C29), part of the work we're doing in paradigmgenomics.org

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Kartik Chundru @chundru.bsky.social · May 26

I will be talking today in Space 3. The session starts at 10:30, my talk will be at 11:15
Come join if you are interested in de novo mutations, non-coding genome, rare disease, or just up for seeing @nickywhiffin.bsky.social talk about RNU4-2 saturation mutagenesis after me 😂
#ESHG2025

Dr Gareth Hawkes @drghawkes.bsky.social · May 23

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

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Reposted by Kartik Chundru

James Fasham @jamesfasham.bsky.social · May 23

Thanks Gareth!

I'm speaking at Workshops W10 and W19.

Also please do see Leigh's poster that has some our data on low penetrance of TS in biobank - keen for feedback!

#ESHG2025

Dr Gareth Hawkes @drghawkes.bsky.social · May 23

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

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Kartik Chundru @chundru.bsky.social · May 23

Do come see some of these talks and posters! These are all incredible scientists (and @drghawkes.bsky.social), I can’t recommend them and their research enough #ESHG2025

Dr Gareth Hawkes @drghawkes.bsky.social · May 23

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

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Kartik Chundru @chundru.bsky.social · May 23

maps.app.goo.gl/3mVcfCo2WWtc...
Courtesy of @jamesfasham.bsky.social

maps.app.goo.gl

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Kartik Chundru @chundru.bsky.social · May 23

I’m mostly excited about the food, but the people and science will be fun too 😂

Kartik Chundru @chundru.bsky.social · May 23

I’m really looking forward to #ESHG2025!
Hopefully it goes better than my start, I dropped my laptop bag first thing this morning 😅 luckily no damage

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Reposted by Kartik Chundru

deciphergenomics.bsky.social @deciphergenomics.bsky.social · May 7

Human Developmental Cell Atlas (HDCA) expression data is now displayed. Expression is displayed in 12 sections of a 6-7 post-conception week human embryo, alongside a sagittal view which displays the region of the embryo represented by each section @mhaniffa.bsky.social

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Kartik Chundru @chundru.bsky.social · May 16

Congrats Issac!!! Great to see this published 🙂

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Reposted by Kartik Chundru

Isaac García @isaacgs94.bsky.social · May 16

It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨‍👩‍👦!

www.nature.com/articles/s41...

The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra - Nature Communications

Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...

www.nature.com

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Kartik Chundru @chundru.bsky.social · Apr 24

Only 3 days until the deadline! Please pass along to anyone you feel would be interested

Kartik Chundru @chundru.bsky.social · Apr 4

Come join us!
I cannot recommend Exeter enough as a place to live and work @exeter.ac.uk! You’ll be joining a very friendly, collaborative, supporting environment. With the added bonus of working on ground-breaking research

Caroline Wright @carolinefwright.bsky.social · Apr 3

Come and work with us - 2 Graduate Research Assistant positions available in genomic medicine, with a particular focus on variant interpretation and data analysis. Part of the Wellcome-funded PARADIGM project, and based in beautiful Exeter UK! jobs.exeter.ac.uk/hrpr_webrecr...

Kartik Chundru @chundru.bsky.social · Apr 18

I thought I’d check what was new on Bluesky 😳 this is seriously f***ed up!
Sending love to my US colleagues ❤️

Max Kozlov @maxkozlov.bsky.social · Apr 18

Per source, NIH has been instructed to hold off from issuing ALL awards to Harvard, Cornell, Columbia, Brown, and Northwestern (including med schools)

Agency staff have also been instructed to not speak about this funding freeze to grantees and applicants

Kartik Chundru @chundru.bsky.social · Apr 11

So cool!! I wasn’t expecting to be surprised so many times when reading the thread 😂

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Reposted by Kartik Chundru

Nicky Whiffin @nickywhiffin.bsky.social · Apr 11

Greg immediately hypothesised that these might be recessive variants, evident only as we used a haploid cell line.

This led us to identify a novel NDD associated with biallelic RNU4-2 variants, with a phenotype distinct from ReNU 🤯

(companion manuscript fully describing this coming soon!)

9/12

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Reposted by Kartik Chundru

Nicky Whiffin @nickywhiffin.bsky.social · Apr 11

🚨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
🧬🖥️🩺

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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

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