Cathy Long

yhtacgnol.bsky.social

21 October 2026 15:08

Feels great to be back at #ASHG26 - started with some Adult Population Screening and about to dive into Newborn Genomic Screening. Lest I forget, also reviving #DessertsofASHG @jamesfasham.bsky.social @agnescaruso.bsky.social

European Society of Human Genetics

eshg.bsky.social

06 October 2026 07:23

📢 New ESHG–ISPD recommendations on prenatal genomic sequencing 📖 Read the full article in the European Journal of Human Genetics: www.nature.com/articles/s41... #ESHG #ISPD #Genomics #Genetics #HumanGenetics #PrenatalSequencing

European Society of Human Genetics

eshg.bsky.social

06 October 2026 07:23

What can rare disease teach us about the noncoding genome? A new Review explores disease-causing variants in promoters, enhancers and silencers, their mechanisms of action, and the challenges of interpreting regulatory variation in human disease. 🔗https://www.nature.com/articles/s41588-026-02743-3

European Society of Human Genetics

eshg.bsky.social

06 October 2026 07:23

New recommendations on returning secondary genomic findings to research participants, including polygenic risk scores and pharmacogenomics. The focus is also on equity, community engagement and the practicalities of returning results at scale 🧬. www.nature.com/articles/s41...

European Society of Human Genetics

eshg.bsky.social

06 August 2026 15:05

🧬 #ESHG Syndromology & Dysmorphology Course 📅 14–16 October 2026 📍 Manchester, UK The curriculum will cover clinical approach, dysmorphology, genomics, mechanisms, treatments and the patient voice in genomic syndromology. 👉 Register now: www.mrcc.org.uk/events/manch... #Genetics #Dysmorphology