Thanks for a fantastic conference #ESHG2026! An intense few days of science and socialising, very inspiring and great to see friends from around the world. Proud of Team Exeter too, for presenting exciting science with huge translational impact whilst also supporting each other and having fun!
Last few weeks to apply for one of these exciting openings in Exeter for clinical academics in genomic medicine (professor and senior lecturer). Ideal if you want to move to lovely Devon and augment our expanding team of geneticists... Closing date is 22 March, www.linkedin.com/jobs/view/43...
Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...
Really pleased to be working with @lcpilling.bsky.social and others investigating haemochromatosis, a surprisingly common rare disease with high penetrance in older adults! Recent publication highlights the effect of polygenic score on penetrance of HFE p.C282Y homozygotes. doi.org/10.1016/j.jh...
Dr Leigh Jackson speaking about evaluating penetrance in population cohorts at Genomics of Rare Disease #GRD26 - @exeter.ac.uk well represented here, with 3 talks and 6 posters! @nihrexeterbrc.bsky.social
🧬 Missense ≠ not splice.
Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing
Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients.
#ESHG2026
Caroline Wright
Caroline Wright
Caroline Wright
Caroline Wright
Caroline Wright
This #RareDiseaseDay we’re highlighting how data sharing supports diagnosis, research & families living with rare conditions.
Watch to find out how access to rare disease data can help families better understand their children’s conditions.
@uniquecharity.bsky.social @geneticallianceuk.bsky.social
Just catching up on @deciphergenomics.bsky.social❤️ in the NMD session at #ESHG2026
Francisca Millan "I would like to start with this wonderful overview that DECIPHER provides. Per-gene, it summarizes all the gene-disease associations ... in different databases."
(I assist DECIPHER, unpaid role)
Do you want to connect with global rare disease specialists? 🧬
Join us on the Wellcome Genome Campus, UK, for Genomics of Rare Disease 2026. #GRD26
🗓️ 27-29 April
Register by 30 March for an in-person place 📩
Celebrate 20 years' of rare research!
📎 bit.ly/48UIeZ2
#AcademicSky #RareDiseaseDay
Caroline Wright
Video
🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026
Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals
Careful variant & phenotype curation matters
In clinically unselected populations, disease risk can be ⬇️ than traditional estimates.
#Genomics
