š¢ Join us now at the #eshg2026 Social Media Workshop! š±āØ
š¤ Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social
šØSpecial Issue for #ESHG2026: āDNA in public health screening programmesā @eshg.bsky.social
š¹What should we screen for and report?
š¹What about uncertainty and harms?
š¹How can we deliver equitably and at scale?
#Genomics #Screening #NewbornScreening
š www.nature.com/collections/...
Welcome to the last day of #eshg2026! Tune in on one of our symposia or educational sessions starting now.
It is really interesting to chart the increase in sophistication and depth in the rare disease community as we bring forward the "genotype early" or even "genotype first" diagnosis pathways, where as "genotype late" was the more common approach >>>
The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...
š§¬ Missense ā not splice.
Mwenda Rintari (Exeter) show that ~2ā3% 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
F Casale: AI for health data and genomics. A cross-scale view of human genetics: from imaging to rare variant tests to patient representations.
Mendelian genes are at the heart of it.
#eshg2026
Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience ššš
š§¬ Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue āļø ) #ESHG2026
Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals
Careful variant & phenotype curation matters
In clinically unselected populations, disease risk can be ā¬ļø than traditional estimates.
#Genomics
#eshg2026 itās a wrap! We hope you enjoyed this yearās #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2027 in Rotterdam!
Mohamed Wafik
European Journal of Human Genetics
We were delighted to share this wonderful collaboration with the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust and The University of Sheffield, aimed at increasing the number of Unique guides.
Find them on our Disorder Guides page: rarechromo.org/disorder-gui...
Ewan Birney
James Fasham
James Fasham
European Society of Human Genetics
European Society of Human Genetics
Pilar Cacheiro
Zornitza Stark
Sarah Wynn
Caroline Wright
š¼ļø P25.064.D They're here!
New approach to creating high-quality patient information at scale.
Sheffield & Unique working with students, clinicians, families & AI
Develop expert-reviewed guides for rare genetic conditions.
#ESHG2026
š rarechromo.org/disorder-gui...
š§¬ Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue āļø ) #ESHG2026
Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals
Careful variant & phenotype curation matters
In clinically unselected populations, disease risk can be ā¬ļø than traditional estimates.
#Genomics
