I have an opening for a staff scientist or bioinformatician in my group at the Sanger Institute (closing date 24 March). Our current projects focus on disentangling rare and common variant contributions to rare neurodevelopmental conditions and to neurodevelopmental and perinatal traits. 1/2
Fabulous work and interesting use of genetic endotypes to understand shared aetiology!
Up front & free to read in our Dec issue #editorspicks: Quantitative analysis of human adult pancreatic histology reveals separate fatty and fibrotic phenotypes in type 2 diabetes link.springer.com/article/10.1...
We have a new open position to analyze large-scale genomic datasets and EHR data to better understand and improve care for type 2 diabetes and monogenic diabetes, in collaboration with Chirag Patel, Miriam Udler, Aaron Leong, and many others. Please share! broadinstitute.avature.net/en_US/career...
New pre-print "Mendelian randomization in a multi-ancestry world: reflections and practical advice" led by @amymariemason.bsky.social on - arxiv.org/abs/2510.17554
⚖️ Why is this important? South Asians contribute >30% of global T2D burden while being represented by 0.4% of genetic studies of T2D. If precision medicine is to be delivered equitably and effectively, we need to improve representation.
This work was supported by a fantastic partnership between our Genes & Health volunteers, team, researchers and Life Sciences consortium. Thank you to all involved.
🧬 >54,000 whole exome sequences in South Asians from a single study: @genesandhealth.bsky.social @qmul-wiph.bsky.social @blizardinstitute.bsky.social, @qmul-ceg.bsky.social PHURI @qminnovation.bsky.social. We validated our findings with data from Dr.Mohan's Diabetes Specialities Centre
💊 🧬 Our novel findings have the power to inform drug discovery and precision medicine and ensure equity.
🔔 Excited to share our preprint from the largest ever exome-wide association study for T2D in South Asians. We make important discoveries implicating the genes HNF4A, GP2, RNF19A in the aetiology of diabetes and metabolic traits in south Asians. 👉 Read it here:
Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities www.nature.com/articles/s41...
Cool findings: Two obesity GRSs for stratification, one with cardiometabolic comorbidities (GRS_BFP) and one without (GRS_uncoupling)
and major thanks to @commsmed.nature.com a fabulous multidisciplinary journal and perfect home for this kind of interdisciplinary research.
Major thanks to data contributors: @genesandhealth.bsky.social Madras Diabetes Research Foundation, SHARE, Scotland. And to study participants and co-authors (many not yet on bluesky!) @theodyssee.bsky.social @anavinuela.bsky.social @arnsbr.bsky.social
We also observed that for people with this genetic risk, certain therapies e.g. sulfonylureas worsened glycemic control because of their mechanism of action. No difference for those in GLP-1RA therapies.
Per XBP1 risk allele carried: HbA1c at dx was 4.32 mmol/mol higher and in people with young+lean onset T2D, this was 6.41 mmol/mol. Meaning that homozygous risk allele carriers have between 8-12 mmol/mol higher HbA1c.
🔍 Using variety of data types (clinical, genomic, transcriptomics and pharmacogenomics) we show how South and East Asians carry higher risk of lower cell-type specific XBP1 expression which likely leads to early beta-cell death, causing worse HbA1c control in young and lean onset T2D.
🎯 XBP1 is a well-known transcription factor, with loads of in vitro and in vivo evidence of its role in maintaining beta-cell health under metabolically stressful conditions.
🧬 We know that early onset beta-cell dysfunction is a key pathway for young + lean type 2 diabetes, but we lack vast genomic resources in which to study the underlying biology.
Developing type 2 diabetes young+lean is not as uncommon as it may seem. This phenomenon is more common in people of South Asian and East Asian ancestry, but is observed across populations. Why does this happen, how should we screen and treat young+lean T2D.
👉 Read our paper here: rdcu.be/eH0YR
Body fat distribution predicts the pace of cardiovascular system aging, with sex-specific patterns, and protective effect of estrogen
academic.oup.com/eurheartj/ad...
🤣🤣
stop making plots!!! 😅
🚨 NEW RESEARCH! ⚕️ 🩺
Dzando et al. identify frailty thresholds for older people in Sub-Saharan Africa, accounting for differences compared to frailty thresholds in high-income countries.
https://bit.ly/44QDcdy
#FrailtyResearch
the deepest of sighs....
Exciting to see this lovely paper out! Many of us have been using the pre-print for a while to demonstrate ancestral heterogeneity in India. Congratulations to the authors!
Super exciting phase 1-2 results of restorative therapy for T1D just out at NEJM www.nejm.org/doi/full/10....
Imagine the transformative potential when paired with genetic + autoantibody screening in early life... nearly every T1D case could be prevented??🤞
Preprint alert! 🚨
doi.org/10.1101/2025...
Our manuscript on Exome sequencing and analysis of 44,028 British South Asians, using @genesandhealth.bsky.social is now available at @medrxivpreprint.bsky.social!
We present several great results, and I’m thrilled to highlight the pieces I worked on:
The war on science in the US is already having an effect on private sector research like AlphaFold. Bears repeating but the private sector builds on top of things created by academic research for the public good. This hurts everyone.
🎉 This paper has been a long time and a labour of love (and hardship) for multiple group members, but, finally: we MPRA'ed 25k introgressed variants (Denisovan and Neanderthal) segregating at allele frequencies > 0.15 in humans today to evaluate their potential to regulate gene expression.
British Steel employs 3.6k people. Coventry Uni group, which auditors say may not survive, employs 7.7k. But there is an emergency debate in parliament for British Steel and nothing for the whole HE sector imploding
