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Rachel Freathy

@rmfreathy.bsky.social
140 followers 145 following 1 posts

Using genetics to understand fetal growth and what it can tell us about diseases of pregnancy and later-life. Professor and research group leader at University of Exeter.

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Caroline Wright @carolinefwright.bsky.social · 16/06/2026
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Reposted by Rachel Freathy
James Fasham @jamesfasham.bsky.social · 16/06/2026
🧬 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
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Luke Pilling @lcpilling.bsky.social · 13/06/2026
Lots of great @exeter.ac.uk researchers here #eshg20266 with talks and posters: check them out!
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James Fasham @jamesfasham.bsky.social · 13/06/2026
Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
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The Loke Centre for Trophoblast Research @loke-ctr.bsky.social · 18/02/2026
This July join us in Cambridge (or online) for our Annual Meeting 'Epigenetics of embryogenesis and placentation' 📅 16-17 July 2026 📍 St John’s College, Cambridge, UK (in-person or full programme available online) 👉 Learn more and register here: www.trophoblast.cam.ac.uk/ctrconferences
trophoblast.cam.ac.uk
Loke CTR Annual Meeting 2026 - Epigenetics of embryogenesis and placentation | Loke Centre for Trophoblast Research
Register for in-person Register for online The 2026 Loke CTR annual meeting theme, “Epigenetics of embryogenesis and placentation” brings together leading clinical and basic scientists to explore…
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Anna Murray @anna123.bsky.social · 14/09/2025
Great to get together with the original genetics of complex traits team @exeter.ac.uk for the 30th birthday celebration of the genetics lab. We haven’t changed a bit! @rmfreathy.bsky.social @timfrayling.bsky.social @drarwood.bsky.social @mnweedon.bsky.social Hana Lange Allen & John Perry
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Mike Weedon @mnweedon.bsky.social · 07/02/2025
A great opportunity to join us in Exeter as a Lecturer in Health Data Science: tinyurl.com/2sy7w2y5. Please get in touch if you're interested!
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Anna Murray @anna123.bsky.social · 29/01/2025
Great representation from @exeter.ac.uk at new Women’s Health conference at Wellcome Genome Campus
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Rachel Freathy @rmfreathy.bsky.social · 19/01/2025
So happy to see this published in NatComms! tinyurl.com/yc66amvu Rare variant assocs with birth weight identify 9 genes. Insights into links between earlygrowth & later metabolic health. Great collabs between teams Exe&Camb. Amazing resources of UKB & deCODE made it possible.
tinyurl.com
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling - Nature Communications
An exome-wide association study for fetal and maternal rare deleterious variants affecting the normal variation in birth weight identifies nine genes involved in adipose tissue regulation, placental f...
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