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European Journal of Human Genetics

@ejhg-journal.bsky.social

The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research https://www.nature.com/ejhg/

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European Journal of Human Genetics@ejhg-journal.bsky.social · 6d ago

📢 As cancer genomic datasets continue to grow, meaningful patient and public involvement becomes important for ethical and trustworthy data governance. 🧬 🔗 Read more on why #PPIE matters in governing cancer genomic data and supporting responsible data use ⬇️ www.nature.com/articles/s41...

Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care - European Journal of Human Genetics

European Journal of Human Genetics - Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · last wk.

A negative exome doesn't always mean the end of the diagnostic journey! 🧬 📢 This study explores the added diagnostic value of Illumina Complete Long Reads (ICLR) and #OpticalGenomeMapping (OGM) in children with unexplained GDD/ID following WES. 🔗 Read more: www.nature.com/articles/s41...

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder - European Journal of Human Genetics

European Journal of Human Genetics - Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder

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European Journal of Human Genetics@ejhg-journal.bsky.social · 2w ago

📢 EIF1AX: A novel gene for syndromic #NeurodevelopmentalDisorders 🧬 De novo hemizygous variants in EIF1AX have been identified in males with neurodevelopmental disorders, brain abnormalities and distinctive clinical features. 🔗 Read more: www.nature.com/articles/s41... #RareDisease #HumanGenetics

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder - European Journal of Human Genetics

European Journal of Human Genetics - Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

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European Journal of Human Genetics@ejhg-journal.bsky.social · 2w ago

A variant of uncertain significance doesn't have to remain uncertain. This approach may help improve variant interpretation and support more informed clinical decision-making in hereditary cancers. 🔗Read more: www.nature.com/articles/s41...

A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling - European Journal of Human Genetics

European Journal of Human Genetics - A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling

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

Variants of Uncertain Significance (VUS) remain a major hurdle in precision oncology. New in #EJHG: an integrative framework combining 10 in silico tools with functional data to prioritize real-world #BRCA1/2 VUS for clinical care. www.nature.com/articles/s41...

European Journal of Human Genetics@ejhg-journal.bsky.social · 3w ago

Why do some forms of #Haemochromatosis cause gradual, late-onset iron loading, while others lead to severe iron overload early in life? 🧬 📢 This review compares the genetic causes and pathophysiology of different types of haemochromatosis ⬇️ 🔗 Find out more: www.nature.com/articles/s41...

Comparing the types of haemochromatosis- from genetics to clinics - European Journal of Human Genetics

European Journal of Human Genetics - Comparing the types of haemochromatosis- from genetics to clinics

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European Journal of Human Genetics@ejhg-journal.bsky.social · 3w ago

Better variant interpretation = better patient care! 🧬 📢 Splice-altering #TP53 exonic variants can drive aggressive cancer, even when the protein effects appear mild or benign. #Splicing #LiFraumeni 🔗 Read more: www.nature.com/articles/s41...

Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing - European Journal of Human Genetics

European Journal of Human Genetics - Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · last mo.

🔗 Read the full text: www.nature.com/articles/s41...

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report - European Journal of Human Genetics

European Journal of Human Genetics - Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report

nature.com

Annemieke Aartsma-Rus@oligogirl.bsky.social · last mo.

#apaperaday Today's pick is a case report from @eshg.bsky.social journal @ejhg-journal.bsky.social by Willemse et al on an ALS patient with a variant of unknown significance in SOD1 who was treated with tofersen. doi: 10.1038/s41431-026-02208-5

European Journal of Human Genetics@ejhg-journal.bsky.social · last mo.

How much personal and genomic data are people willing to share for research? 🧬 📢 Participant preferences in population genomics research show willingness to share personal information including genomic data for secondary research purposes. ⬇️ 🔗 Read more: www.nature.com/articles/s41...

Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project - European Journal of Human Genetics

European Journal of Human Genetics - Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · last mo.

📢 UK primary care electronic health record databases are markedly underutilised for rare genetic diseases. 🧬 Their demonstrated capacity, scale, scope, and population representativeness support wider use #RareDisease @tomwrightuom.bsky.social 🔗 Read more: www.nature.com/articles/s41...

Systematic mapping of rare genetic disease studies using UK primary care electronic health records - European Journal of Human Genetics

European Journal of Human Genetics - Systematic mapping of rare genetic disease studies using UK primary care electronic health records

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · last mo.

🧬 Genetic modifiers may influence corticosteroid response in #DuchenneMuscularDystrophy (DMD). 📢 This paper continues the investigation of genetic factors that might modify disease severity in patients with DMD. 🔗 Read more: www.nature.com/articles/s41... #Genetics #PrecisionMedicine #RareDisease

Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy - European Journal of Human Genetics

European Journal of Human Genetics - Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy

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European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

📢 A recent study on Thoracic Aortic Disease Cascade Screening uses mixed-methods & patient co-production to reveal barriers/facilitators to screening for aortic disease. 🧬 Empower patients to improve outcomes! #ThinkAortaThinkFamily 🔗 Read more: www.nature.com/articles/s41...

Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation - European Journal of Human Genetics

European Journal of Human Genetics - Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

📢 Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type 🧬 🔗 Read the full text: www.nature.com/articles/s41...

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type - European Journal of Human Genetics

European Journal of Human Genetics - Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

📢 The largest cohort of Brown Vialetto Van Laere Syndrome reported to date from the Arabian Peninsula ⬇️ www.nature.com/articles/s41... This study emphasises the importance of early diagnosis and treatment including pre-symptomatic diagnosis.

SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula - European Journal of Human Genetics

European Journal of Human Genetics - SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

📢 New study reveals cultural drivers of genetic sequencing adoption in China: transparency, cost, and psychological impact outweigh privacy concerns. Key insights for advancing precision public health ⬇️ 🔗 Read the full text: www.nature.com/articles/s41...

Public perceptions of genetic sequencing in China: barriers and drivers of adoption - European Journal of Human Genetics

European Journal of Human Genetics - Public perceptions of genetic sequencing in China: barriers and drivers of adoption

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

What do people writing for Mass Observation, an archive of everyday thought, feeling and opinion in the UK, think about genetics? 🧬 🔗 Find out more: www.nature.com/articles/s41...

‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain - European Journal of Human Genetics

European Journal of Human Genetics - ‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain

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European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

Genomics in healthcare 🧬 📢 In the Central Denmark Region, WGS of 2,317 patients with suspected genetic disorders (2021-2024) achieved an overall diagnostic yield of 20%, ranging from 6% to 60% depending on the clinical indication. #RareDisease #Genomics 🔗Read more: www.nature.com/articles/s41...

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients - European Journal of Human Genetics

European Journal of Human Genetics - Short-read genome sequencing at population scale: diagnostic insights from 2317 patients

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

Genomics in healthcare 🧬 📢 In the Central Denmark Region, WGS of 2,317 patients with suspected genetic disorders (2021-2024) achieved an overall diagnostic yield of 20%, ranging from 6% to 60% depending on the clinical indication. #RareDisease #Genomics 🔗Read more: www.nature.com/articles/s41...

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients - European Journal of Human Genetics

European Journal of Human Genetics - Short-read genome sequencing at population scale: diagnostic insights from 2317 patients

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

Induced pluripotent stem cells are reshaping how we study complex diseases. This review outlines how advances in scalability, environmental modelling, and representation of diverse ancestries can help bridge the gap between genetic variation and cellular mechanisms. www.nature.com/articles/s41...

Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells - European Journal of Human Genetics

European Journal of Human Genetics - Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

How does genetic uncertainty shape pregnancy? 🧬 📢 This qualitative study explores how expectant parents with NF1 navigate bonding, anxiety, and decision-making in the face of inherited risk. 🔗 Read more: www.nature.com/articles/s41...

Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study - European Journal of Human Genetics

European Journal of Human Genetics - Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

How does genetic uncertainty shape pregnancy? 🧬 📢 This qualitative study explores how expectant parents with NF1 navigate bonding, anxiety, and decision-making in the face of inherited risk. 🔗 Read more: www.nature.com/articles/s41...

Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study - European Journal of Human Genetics

European Journal of Human Genetics - Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 2mo ago

📢 The first genome-wide association study of Circle of Willis anatomy: www.nature.com/articles/s41... This study reveals heritable components and novel loci associated with brain vascular structure, offering new insights into human neurovascular disease genetics. 🧬

Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population - European Journal of Human Genetics

European Journal of Human Genetics - Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population

nature.com

European Journal of Human Genetics@ejhg-journal.bsky.social · 3mo ago

🚨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/...

DNA in public health screening programmes

The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...

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