What have we learned from >10K newborns in gNBS studies? 🇺🇸🇧🇪🇦🇺 🧬extraction from Guthrie cards is feasible ✅ screen positive rate is 1.6-3.7% We now need: 📈Scalability ⚖️ Equity 💰Cost effectiveness 🤓 Policy frameworks and implementation models @genomeseb.bsky.social @heidicope.bsky.social

The American Journal of Human Genetics@ajhgnews.bsky.social · 5d ago

🧬New from @zornitza.bsky.social & co! 📄 International experiences of genomic newborn screening: Lessons from over 10,800 newborns

🧬New from @zornitza.bsky.social & co! 📄 International experiences of genomic newborn screening: Lessons from over 10,800 newborns

International experiences of genomic newborn screening: Lessons from over 10,800 newborns

This perspective summarizes early experiences from genomic newborn screening studies, totaling over 10,800 infants from the US, Belgium, and Australia. While these provide data on technical feasibilit...

cell.com

In August: Reviews on salt and CKD; ANCA-associated vasculitis; and organelle-specific autophagy, an Expert Recommendation on gene–disease relationships for glomerular phenotypes, plus Commentaries on reforms to facilitate collaboration; ocean health; and osteoporosis management bit.ly/4whZ2lG

Talos, a new tool for the automated analysis of genomic data, demonstrates the feasibility and diagnostic utility of systematic re-analyses of data from large rare disease cohorts.

Automated reanalysis of genomic data for rare disease diagnostics at scale - Nature Medicine

Talos, a new tool for the automated analysis of genomic data, demonstrates the feasibility and diagnostic utility of systematic reanalyses of data in rare diseases.

dlvr.it

And thank you @eshg.bsky.social for giving us the opportunity to present Talos at the ESHG conference first 🙌

European Society of Human Genetics@eshg.bsky.social · 3mo ago

📊New study introduces Talos, an open-source tool for automated, iterative reanalysis of genomic data. When applied to an undiagnosed cohort, Talos added 5.1% diagnostic yield, showing the potential of systematic reanalysis in rare disease diagnostics. buff.ly/kUqOIBs

📣 Out now @naturemedicine.bsky.social 🧬🤖 👉 rdcu.be/fqasl Our automated reanalysis tool Talos enables broad adoption and delivers timely + equitable #raredisease #diagnosis at scale! ♻️ Runs monthly on >10K datasets 🎯High specificity 💰Low running costs 🤗Open source @dgmacarthur.bsky.social

What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...

Thank you @eshg.bsky.social #eshg2026 for another fabulous conference!! 🇸🇪🧬

🚨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/...

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

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 🧬👶🚀

🧬 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

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

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

👋🧬 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

👏👏👏 fantastic to see @nickywhiffin.bsky.social win the Leena Peltonen award at #eshg2026 @eshg.bsky.social 👏👏👏

This study is now being presented at #eshg2026

NEJM.org@nejm.org · 4mo ago

In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing. Full study results: https://nej.md/4e03ejh #ESHG2026

To all attending #eshg2026: if you are ready to spent extra attention to detail throughout the entire conference, I recommend the informal ESHG bingo card. Brought by our great postdoc @lydiasagath.bsky.social @eshg.bsky.social First bingo gets a kanelbullar from me… tinyurl.com/eshgbingo2026

ESHG 2026 BINGO

Play virtual ESHG 2026 BINGO with your friends for free on any device. Customize the bingo cards and generate printable or virtual bingo cards for free.

tinyurl.com

Is your BlueSky a bit light on genetics content... Add these accounts 👇

European Society of Human Genetics@eshg.bsky.social · 4mo ago

We’ve updated our starter package with interesting accounts to follow. Have a look at it: go.bsky.app/RsMKmCE Let’s build the ESHG community together!

Really excited to be in Gothenburg 🇸🇪 for #eshg2026 looking forward to great science and to catching up with many friends and colleagues @eshg.bsky.social 🧬

Welcome to the ESHG 2026 – #hybridconference! Join the conversation by using #eshg2026. With this hashtag you will also find the latest updates. See you at 8:30 CEST for the first sessions of today!

Open science, altruism and impact: An interview with clinical geneticist @zornitza.bsky.social Read the interview here: go.nature.com/4aJsp7B

🥳 Another great collaboration! New MOI for an established gene @diseasegenes.bsky.social these are always trickier to spot!

The American Journal of Human Genetics@ajhgnews.bsky.social · 4mo ago

🧬New from Wijngaard et al! 📄Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly

Australia is leaving money put aside for medical research funding in the bank while our brightest minds head overseas and young researchers question their future in medical research.

Check out the third in a blog series focused on researchers’ experiences with open science practices: Open science, altruism and impact: An interview with clinical geneticist Zornitza Stark go.nature.com/42DMsQt Thank you, @zornitza.bsky.social! 🙏

‘Medical research isn't just good for our health, it's also great for our economy.’ In this Budget, the govt has to commit to spending money put aside for that purpose in the Medical Research Future Fund. Before we lose more brilliant minds overseas, before we damage the sector irrevocably.

Proud to share this latest publication by our PhD student Dr Megan Ball on mainstreaming genomic testing for #mito disease in Australia. Pleasure collaborate with @zornitza.bsky.social @thorburnmito.bsky.social and John Christodoulou supporting Megan in her studies. www.nature.com/articles/s41...

Mainstreaming genomic testing for mitochondrial disease in Australia - European Journal of Human Genetics

European Journal of Human Genetics - Mainstreaming genomic testing for mitochondrial disease in Australia

nature.com

An impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟

The American Journal of Human Genetics@ajhgnews.bsky.social · 8mo ago

🧬New from Wirth et al! 📄SMN1 variants identified by false-positive #SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

Fantastic opportunity and a brilliant team 🤩!

Caroline Wright@carolinefwright.bsky.social · 8mo ago

Some exciting openings in Exeter for clinical academics (professor and senior lecturer). Come and shape the future of translational genomic medical research in the South West! Lovely place to work, lovely people to work with, and freedom to pursue great science... www.linkedin.com/jobs/view/43...