ESHG - European Society of Human Genetics

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ESHG - European Society of Human Genetics

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The European Society of Human Genetics (ESHG) is a non-for-profit organisation for human genetics specialists.

Members of the Society (about 2,000) include all persons involved in the field of human genetics.

30/10/2026

📄 New paper in Nature: “ctDNA clearance and outcomes for resectable lung cancer from NeoCOAST-2”

🫁 Resectable non-small cell lung cancer (NSCLC) is associated with high risk of relapse despite perioperative treatment

💉 Phase 2 randomised platform trial of novel perioperative treatments for resectable NSCLC

🧬 Clearance of circulating tumour DNA (ctDNA) measured during neoadjuvant treatment was associated with longer event-free survival

🔬 Combined assessment of ctDNA clearance and pathological complete response status may improve risk stratification in NSCLC

🔗 https://doi.org/10.1038/s41586-026-11328-3

29/10/2026

🧬 Genetic testing can identify previously unrecognised cancer predisposition in children.
An interdisciplinary team found disease-causing variants in cancer predisposition genes in 46% of previously undiagnosed symptomatic children who underwent genetic testing.
Almost all children with a confirmed cancer predisposition syndrome received surveillance recommendations.

https://www.nature.com/articles/s41431-026-02244-1

28/10/2026

📄 New paper in Genome Medicine: “The average individual genome: a survey of nearly 1 million whole-genome sequences”

🧬 WGS data from 🇬🇧 UK Biobank and 🇺🇸 All of Us

🔬 The ubiquity of human genetic variation has implications for genomic screening and genetic counselling

🌍 More inclusive and representative datasets are needed for equitable precision medicine

🔗 https://link.springer.com/article/10.1186/s13073-026-01792-x

28/10/2026

📢 Now accredited: Covering The Gaps – Live Online Course

We’re delighted to announce that Covering The Gaps – The Course You Didn’t Know You Needed, taking place online on Thursday 26 and Friday 27 November 2026, has been accredited with 15.5 European CME credits.

This two-day online course focuses on the topics that are important for genetics research and clinical practice, yet are frequently neglected, taken for granted, or left for others to cover.

📅 Dates: 26–27 November 2026
📍 Format: Online (Live via Zoom)
💻 Registration fee: EUR 149

Don’t miss this opportunity to learn, reflect, and help bridge the gaps in genetics!

👉 Register now: https://www.eshg.org/covering-the-gaps

27/10/2026

🧬 When should patients with pituitary adenomas undergo genetic testing?
A new Pituitary Society consensus statement provides evidence-based recommendations on who should be tested, which genes to include and how genetic results can inform clinical management and follow-up.

https://www.nature.com/articles/s41574-026-01291-4

22/10/2026

Major genomic milestone! A new phenome-wide map of 467k+ UK Biobank genomes highlights the massive impact of structural variants (SVs) on human health:
🔹 37,063 SV-trait associations across 18k+ phenotypes & proteins
🔹 Rare SVs exert powerful effects on disease risk
🔹 82%+ of SVs were hidden from prior copy-number studies
🔹 Multi-ancestry meta-analyses reveal key cross-ancestry links

https://www.cell.com/cell/fulltext/S0092-8674(26)01138-4

21/10/2026

Are longer telomeres always better? Think again! 🧬
A new review by Stuart et al. shows telomere shortening is actually a vital defense against cancer. Activating telomerase for anti-aging could carry real risks.
Read more: https://www.nature.com/articles/s41576-026-01001-w

20/10/2026

Presenting your research at the International Congress of Human Genetics 2027? The European Society of Human Genetics is offering 10 fellowships to support presenters of accepted abstracts attend the ICHG 2027.

📅 Application Deadline: 2 November 2026, 23:59 CET
👉 Find out more and apply: https://www.eshg.org/conferences/fellowship-opportunities

20/10/2026

📄 New paper in American Journal of Human Genetics reporting the genetic architecture of pentanucleotide repeats (PNTR)

🧬 Genome-wide reference of PNTR
☑️ Establishing principles of PNTR variation
⚖️ Useful for interpreting repeat alleles, prioritising candidate loci & diagnostic discovery

🔗 https://www.cell.com/ajhg/fulltext/S0002-9297(26)00382-4

19/10/2026

📄 A study published in Nature Communications evaluated rapid whole genome sequencing in paediatric oncology services and reported feasibility and clinical utility when deployed as a first line diagnostic test in childhood cancers:

💊 Faster access to targeted therapy
📊 Risk stratification
🛑 Avoidance of unnecessary investigations and treatment escalation

🔗 https://www.nature.com/articles/s41467-026-77918-x

Adresse

C/o Vienna Medical Academy, Alserstrasse 4
Wien
1090

Telefon

+43140513830

Website

http://www.eshg.org/

Benachrichtigungen

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