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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

European Society of Human Genetics @eshg.bsky.social · 6d

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

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European Society of Human Genetics @eshg.bsky.social · 13d

🧬 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...

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…

www.cell.com

Reposted by European Society of Human Genetics

Science Magazine @science.org · 14d

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

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

scim.ag

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European Society of Human Genetics @eshg.bsky.social · 14d

📢 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...

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

Covering The Gaps

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

European Society of Human Genetics @eshg.bsky.social · 15d

👥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...

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…

www.cell.com

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European Society of Human Genetics @eshg.bsky.social · 16d

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...

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

Farewell to Albert Schinzel, former President of ESHG

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European Society of Human Genetics @eshg.bsky.social · 20d

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:

09/18/2025

The European Certificate in Medical Genetics and Genomics (ECMGG) - European Journal of Human Genetics

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European Society of Human Genetics @eshg.bsky.social · 29d

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

European Journal of Human Genetics - The European Certificate in Medical Genetics and Genomics (ECMGG)

buff.ly

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European Society of Human Genetics @eshg.bsky.social · Sep 8

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...

Leena Peltonen Prize 2026 – Submission of Nomination

forms.eshg.org

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

📢 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.

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

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:

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…

ESHG: ESHG Mentorship Programme

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European Society of Human Genetics @eshg.bsky.social · Sep 1

🚀 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

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

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

European Society of Human Genetics @eshg.bsky.social · Sep 1

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...

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

Whole-genome sequencing of 490,640 UK Biobank participants - Nature

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European Society of Human Genetics @eshg.bsky.social · Aug 22

📢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...

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…

ESHG Webinar Series Episode 5 with Siddharth Banka

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European Society of Human Genetics @eshg.bsky.social · Jul 31

📺 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?...

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…

youtu.be

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European Society of Human Genetics @eshg.bsky.social · Jul 29

🌍 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...

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…

Multiplexed assays of variant effect for clinical variant interpretation - Nature Reviews Genetics

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European Society of Human Genetics @eshg.bsky.social · Jul 28

🧬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...

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…

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

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European Society of Human Genetics @eshg.bsky.social · Jul 22

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

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European Society of Human Genetics @eshg.bsky.social · Jul 17

📢 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.

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European Society of Human Genetics @eshg.bsky.social · Jul 17

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...

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

ESHG welcomes forthcoming consultations on Greek newborn screening programme

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European Society of Human Genetics @eshg.bsky.social · Jul 16

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

Statement from ESHG

Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing - European Journal of Human Genetics

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European Society of Human Genetics @eshg.bsky.social · Jul 7

@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.

European Journal of Human Genetics @ejhg-journal.bsky.social · Jul 1

Male Robertsonian translocation carriers are significantly more likely to produce balanced embryos via PGT, shaping counselling for couples on their reproductive journey. 🧬

⬇️⬇️
www.nature.com/articles/s41...

European Journal of Human Genetics - Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing