Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Zornitza Stark
🧬 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
Thank you @eshg.bsky.social #eshg2026 for another fabulous conference!! 🇸🇪🧬
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
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
🚨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/...
👋🧬 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
Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏
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 🧬👶🚀
👏👏👏 fantastic to see @nickywhiffin.bsky.social win the Leena Peltonen award at #eshg2026 @eshg.bsky.social 👏👏👏
Zornitza Stark
James Fasham
James Fasham
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
European Journal of Human Genetics
Zornitza Stark
Zornitza Stark
Tom Wright
Zornitza Stark
Pilar Cacheiro
European Society of Human Genetics
The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...
