Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Zornitza Stark
Loading...
Another great #genomic NBS workshop today at #eshg2026 @eshg.bsky.social Fantastic to see the focus shift towards HOW we do this! So much we need to scale up: public and professional engagement, infrastructure, workforce! While ensuring sustainability and equity 🧬👶🚀
A Tucci: Prevalence of repeat expansion disorders.
- Mutation freq ≠ disease freq: disease prevalence model using carrier freq
- Pathogenic repeat expansions more freq in genomic databases than expected from clinical prevalence
- Two main factors: under ascertainment+incomplete penetrance
#eshg2026
Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏
🚨Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshg.bsky.social
🔹What should we screen for and report?
🔹What about uncertainty and harms?
🔹How can we deliver equitably and at scale?
#Genomics #Screening #NewbornScreening
🔗 www.nature.com/collections/...
👏👏👏 fantastic to see @nickywhiffin.bsky.social win the Leena Peltonen award at #eshg2026 @eshg.bsky.social 👏👏👏
👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social
3,171 abstracts from 95 countries:
🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al
👥6,048 participants:
🙋♂️🙋♀️4,812 in person
💻 🖥️1,248 online
⛅️ Fascinating word cloud from all presentation titles
🇸🇪 It’s good to be in Gothenburg!
#RareDisease
#Genomics
🧬 Suzi Walker, Genomics England
Can RNAseq help solve more rare disease cases?
RNAseq from 7,841 participants in the 100kgp
Abberant splicing confirmed in >50% of known case - limited by expression in blood
Also new candidate variants identified
#ESHG2026
Wendy Chung (Columbia)
GUARDIAN Study approach to genomic newborn screening
Focus on childhood-onset conditions
- high penetrance
- effective interventions
- clear evidence base
👀 high uptake >92% of optional additional testing in conditions where above less clear
#ESHG2026
Thank you @eshg.bsky.social #eshg2026 for another fabulous conference!! 🇸🇪🧬
Guillaume Canaud, Mendel Lecturer at #eshg2026!
Professor Canaud is internationally recognised for his pioneering research into the molecular mechanisms of rare vascular disorders and for translating genetic discoveries into targeted therapies that are transforming patient care
#Genetics #Genomics
The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...
