On August 1, 1931, Harriet Creighton and Barbara McClintock published the first experimental proof that genes are physically located on chromosomes—a discovery that transformed genetics. 1/3🧵

"Are we ready for the next big pandemic? My answer is no" Sadly, this is no longer a shocking perspective. But, despite the astonishing stupidity of the Trump regime, this isn't a failing unique to the US. The next pandemic is going to be a wild ride for us all. www.theguardian.com/us-news/2026...

CDC cuts leave US less prepared for disease outbreaks, former officials warn

As measles, hantavirus and cyclospora spread, experts say lost staff and expertise are slowing the response

theguardian.com

This woman contracted polio as a child about two years before a vaccine became available and spent much of her life in and out of an iron lung to survive. I truly can't fathom anti-vaxxers who seem happy to resurrect these diseases. people.com/the-last-us-...

Last U.S. Polio Survivor in an Iron Lung Dies After the Machine Started to Break Down and They Couldn’t Find Anyone to Repair It

Martha Ann Lillard, the last U.S. polio patient who used an iron lung to survive, died of long COVID at age 78.

people.com

🧬 📄 Transcript selection profoundly influences clinical variant interpretation 👉 UCSC multi-region visualisation can support transcript-aware analysis across diagnostics, research and education 👏 @carolinefwright.bsky.social and colleagues #RareDisease

Caroline Wright@carolinefwright.bsky.social · 2mo ago

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...

#eshg2026 Inspiration to follow up with the online recorded talks below:

European Society of Human Genetics@eshg.bsky.social · 2mo ago

#eshg2026 Early Career awards: Bryce Sebastian Rampal (Montréal, CA) Tanja Frey (Zurich-Schlieren, CH) Anthony Edward Francis McGuigan (Oxford, UK) Irena Josephina Johanna Muffels (Utrecht, NL) Samuel Moix (Lausanne, CH) Lea M Urpa (Helsinki, FI) James Russ-Silsby (Exeter, UK)

#eshg2026 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2027 in Rotterdam!

I am recruiting a PhD student (fully funded, 4yrs) to analyze modern 🧬 and ancient 🦴 genomic data from humans and domestic animals 🐑 Please share, I am happy to chat at #ICP2026 or #SMBE2026 this summer www.uu.se/en/about-uu/...

Celiac disease causes inflammation in your small intestine when you eat gluten. If you eat it a lot, the constant inflammation can damage your intestine. It can make it hard to get enough nutrients from your food. Fortunately, eating gluten-free foods can often reverse the damage.

Have you heard of liquid biopsies but are still unsure exactly what they are? Cancer Today offers an overview of these tests that can help guide some treatment decisions: www.cancertodaymag.org/summer-2026/...

What Are Liquid Biopsies? | Cancer Today

Blood tests can detect signs of cancer, but traditional screening remains more effective for finding early-stage disease.

cancertodaymag.org

Don't miss this opportunity to present your research at the leading translational stem cell science event. Poster abstract submissions close on June 23 for the 2026 JAX-NYSCF Conference. Learn more and submit your abstract today: https://go.jax.org/jax-nyscf-conf 🧠 🧪 🧬 🔬

NYSCF Conference

The NYSCF Conference is the premier translational stem cell research conference. Held annually for two decades, it has brought together world-leading experts from various disciplines across biomedicin...

go.jax.org

Among patients with hereditary angioedema, a single iv infusion of lonvo-z resulted in a significantly lower rate of hereditary angioedema attacks than placebo. #eshg2026 www.nejm.org/doi/full/10....

Lonvoguran Ziclumeran — In Vivo CRISPR Gene Editing in Hereditary Angioedema | NEJM

Hereditary angioedema is a rare and potentially life-threatening genetic condition characterized by recurrent and debilitating swelling attacks. Lonvoguran ziclumeran (lonvo-z) — an investigational...

nejm.org

K. Sablauskas presents a pan-cancer RNAseq classifier for childhood tumors. #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/...

A very interesting presentation on using liquid biopsy of aqueous humor in RB patients by N. Guleray Lafci. #eshg2026

Why to include pediatric cancer genes in gNBS? Early detection can make a difference. The two genes that were selected in the CANGUR project were - RB1 and WT1. #eshg2026

All about pediatric cancers session starts with E. Carrasco presenting on the inclusion of pediatric cancer susceptibility genes in newborn screening. #eshg2026

This are the recommendations for gNBS but will need legal implementation. #eshg2026

One of the key questions with genomic NBS screening is whether the data should be archived for later use or should it be deleted? What is your opinion? #eshg2026

Rebecca Ahrens-Nicklas (CHOP) 💊 First-in-human personalised base editing for CPS1 deficiency Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth. pubmed.ncbi.nlm.nih.gov/40373211 #ESHG2026

After a rapid change of rooms, I am now following E. Winkler's on ownership of raw genomic data and what happens to data from newborn genomic screening. #eshg2026

The source of DNA is very important, fetal diagnosis can be challenging as fetal features are still developing. Most of this testing is done as part of research projects. #eshg2026

Day 3 of #eshg2026 ✨ Marked the last day of the exhibition, giving participants one final chance to connect with exhibitors, explore new technologies, and browse the poster presentations. #Genetics #Genomics #eshg 📸 Credit: Mathias Bergeld/Bildbyrån

Prenatal diagnosis is triggered by fetal abnormality. In 2020 clinical exomes replaced panels for fetal anomalies. Since 2026 genome sequencing is first-line but insurance dependent. #eshg2026

Now, M. Wojcik discusses genome and RNAseq for fetal medicine. #eshg2026

Start of the last day of #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

One gene can produce multiple episignatures, frequently with distinct phenotypes. #eshg2026

Over 200 episignatures are known, and they can be used as biomarkers to indicate an associated syndrome. #eshg2026

Moving on to the last talk by M. Alders, who will present on mutations nearly missed with episignatures. #eshg2026

Frameshift mutations in the last exon can cause a very different phenotype than mutations in other exons. #eshg2026