Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
Caroline Wright
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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)
🧬 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
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
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
Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...
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...
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...
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
Some exciting openings in Exeter for clinical academics (professor and senior lecturer). Come and shape the future of translational genomic medical research in the South West! Lovely place to work, lovely people to work with, and freedom to pursue great science... www.linkedin.com/jobs/view/43...
Caroline Wright
James Fasham
Caroline Wright
Wellcome Connecting Science Learning and Training
James Fasham
Caroline Wright
Caroline Wright
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Video
Caroline Wright
🧬 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
