European Society of Human Genetics

Recent advances in mutational signatures and clinical applications Mutational signatures are patterns of mutations that arise in DNA because of the processes that are occurring within a cell, in… ESHG Webinar Series Episode 5 with Serena Nik-Zainal

🎥 The recording of #ESHG Webinar Series – Episode 6 with Serena Nik-Zainal is now online!

🧬 “Recent advances in mutational signatures and clinical applications”

Watch the full talk here 👉 youtu.be/_Up1IGmEiN8
#Genetics #Genomics #MutationalSignatures #eshgWebinar

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder - European Journal of Human Genetics European Journal of Human Genetics - N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder

Just published in @ejhg-journal.bsky.social:
🧬CACNB1 N-terminal variants cause a novel congenital muscular disorder. Long-read transcriptomics in human myotubes provides detailed profiling of CACNB1 muscle isoforms.

Full paper:
www.nature.com/articles/s41...

Inherited eye diseases cause early-onset vision loss, yet many cases remain unsolved due to missing heritability. On Oct 29, discover how multi-omics can boost diagnosis and reveal new therapeutic opportunities. www.eshg.org/webinarseries
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene…

🧬 Featured in AJHG: Heterozygous variants in splicing factor SF1 cause a novel neurodevelopmental disorder. Functional work using NPCs shows SF1 downregulation alters gene expression and alternative splicing, adding SF1 dysfunction to spliceosomopathies.

www.cell.com/ajhg/abstrac...

In a first, a gene therapy seems to slow Huntington disease Small study suggests uniQure drug could be first successful treatment for devastating brain disorder

“This is an immensely exciting development for the Huntington’s field.” https://scim.ag/4nnW62z

ESHG: Covering The Gaps - The Course You Didn’t Know You Needed Covering The Gaps

📢 Register now for Covering The Gaps – The Course You Didn’t Know You Needed.
Addressing overlooked issues like ethics, quality & integrity

🗓️ Online, Nov 27–28, 2025
✅ Accredited with 15 CME credits
⚠️ Limited spots available

Learn more & register: www.eshg.org/covering-the...

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants The HBOP VCEP developed PALB2-specific ACMG/AMP variant interpretation guidelines by tailoring, limiting, or removing existing codes. Testing on 39 pilot variants improved concordance with ClinVar…

👥New from ClinGen: The Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel has released PALB2-specific ACMG/AMP variant interpretation guidelines for accurate classification of PALB2 germline sequence variants.
Full guidelines: www.cell.com/ajhg/fulltex...

PIGC-related encephalopathy: Lessons learned from 18 new probands - European Journal of Human Genetics European Journal of Human Genetics - PIGC-related encephalopathy: Lessons learned from 18 new probands

Out in @ejhg-journal.bsky.social 📢
Delineation of clinical and biomolecular characteristics of the largest cohort harboring biallelic PIGC variants:
🧪18 cases
🧠severe NDD, refractory seizures, premature death
🧬impaired GPI-AP biosynthesis

Read more:
www.nature.com/articles/s41...

Farewell to Albert Schinzel, former President of ESHG 09/18/2025

We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course.

Read more:

Published in @ejhg-journal.bsky.social:

1️⃣ European Certificate in Medical Genetics & Genomics (ECMGG): buff.ly/CUpaOWd

2️⃣ European Training Requirements for Medical Genetics (ETR-MG): buff.ly/DgCPtde

Leena Peltonen Prize 2026 – Submission of Nomination

Nominations are open for the Leena Peltonen Prize 2026 (€10,000).

candidates: outstanding young researchers, Early career stage, no age or graduation limit
Awardee will give the Leena Peltonen Lecture at #eshg2026 in Gothenburg.

📅 Deadline: 31 Oct 2025
🔗 forms.eshg.org/leena-pelton...

📢 Episode 6 of the #ESHG Webinar Series: September 24 at 16:00 CEST
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.

Proposed SRY test to determine athletes’ sex should be treated with caution In the light of recent controversy about eligibility for male and female categories in sport, the International Olympic Committee has decided to set up a working group to look at gender eligibility…

The ESHG calls for caution regarding the proposed use of the SRY gene test in sport. Eligibility rules must acknowledge biological complexity, allow for exceptions, and ensure proper athlete support. Read the full statement:

ESHG: ESHG Mentorship Programme The International Mentorship Program is a professional development and education program for early-career physicians, researchers, counsellors, nurses, diagnostic scientists and allied health…

🚀 Applications are now open for the ESHG Mentorship & Observership Programmes!
For young geneticists from economically-developing countries: gain international experience & support for lab/department visits. Deadline: Nov 30, 2025.
🔗https://www.eshg.org/education/eshg-mentorship-programme

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders - European Journal of Human Genetics European Journal of Human Genetics - Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Published in EJHG Journal:
📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅

www.nature.com/articles/s41...

Whole-genome sequencing of 490,640 UK Biobank participants - Nature A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation…

📢Paper alert!
WGS of >490K UKB participants across diverse ancestries, combined with rich phenotypic data, unlocks novel genotype–phenotype associations, accelerating precision medicine and global health research. 🌍🧬
#Genomics #UKB #PrecisionMedicine

www.nature.com/articles/s41...

From Chromatinopathies to Episignatures Chromatin enables packaging of DNA into nuclei and is critical for many biological processes ranging from gene expression to cell division. Chromatin… ESHG Webinar Series Episode 5 with Siddharth Banka

📺 The recording of Episode 5 of the #ESHG Webinar Series "From Chromatinopathies to Episignatures" by Siddharth Banka (Manchester Rare Conditions Centre,
@mft-imrare.bsky.social) is now on YouTube! Watch here: youtu.be/GMgWiGXq6mc?...

Structural variation in 1,019 diverse humans based on long-read sequencing - Nature Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural…

🌍 New in Nature: Long-read sequencing of 1019 genomes reveals structural variant (SV) diversity across 26 human populations, providing a global resource for understanding genetic variation and its link to human disease.
#Genomics #Pangenome #SVs

www.nature.com/articles/s41...

Multiplexed assays of variant effect for clinical variant interpretation - Nature Reviews Genetics Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et al. discuss the advances in…

🧬Multiplexed Assays of Variant Effect (MAVEs) generate functional data for thousands of variants in a single experiment, accelerating VUS reclassification and improving patient care.
#MAVEs #Genomics

Explore the latest advances in MAVE technologies:
www.nature.com/articles/s41...

Genetic and genomic knowledge is key in today’s clinical practice.
Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening.
📚 Start learning now: buff.ly/GciCCGE
#Genetics #Genomics #MedicalEducation #Xpeer #ESHG

📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST!
🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures"
💻 Registration is free but required: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization - European Journal of Human Genetics European Journal of Human Genetics - Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

New in @ejhg-journal.bsky.social 📢

Comprehensive phenotypic and genotypic characterization of CNOT3-related neurodevelopmental disorders #NDDs:
🧬 51 patients from 42 families
🔍 28 novel variants
📍 Missense variants clustered in key functional domains

www.nature.com/articles/s41...

ESHG welcomes forthcoming consultations on Greek newborn screening programme Statement from ESHG

ESHG welcomes forthcoming consultations on Greek newborn screening programme. On this topic, the EJHG has opened a call for papers on the use of genetic data in public health screening programmes. Read the full ESHG statement here: tinyurl.com/m8bp6m4m

@ejhg-journal.bsky.social is now actively sharing updates, publications, and announcements on Bluesky.
If you haven’t connected with them yet, we’d love to invite you to follow the account.

📊A semi-automated mtDNA-filtering pipeline combined with MitoPhen-based HPO phenotype similarity scoring was applied to a large cohort of undiagnosed rare disease patients, increasing the diagnostic yield by 0.4%.
#SolveRD #mtDNA #RareDisease

Read more:
www.cell.com/ajhg/fulltex...

Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!

Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.

📺 Watch the recording: youtu.be/pWhienkM6L4?...

#Genomics #RareDisease #VariantInterpretation #ESHG

Eye2Gene Contact us if you require access!

Introducing Eye2Gene: a deep-learning model trained on multimodal retinal imaging (FAF, IR, OCT) to predict causative genes among 63 candidates for inherited retinal diseases, supporting diagnosis and variant prioritization.
👉 app.eye2gene.com

www.nature.com/articles/s42...

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST!
🧬 Speaker: Kaitlin Samocha on variant interpretation using population data
💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

ESHG: 2025 Press Releases The news that the Greek government has entrusted newborn screening to private organisations raises many concerns. Newborn screening is a vital public health initiative, and significant efforts are…

The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg