👪 🧬 Explore innovative, family-centred support solutions ⬇️ www.nature.com/articles/s41... #PaediatricGenomics #FamilySupport #RareDisease

Parents of children receiving rapid genomic sequencing often carry a heavy, invisible burden. 📢 So what do parents say about this journey? And more importantly, how can we do better to support them through the journey? 🧬 Read what parents shared ⬇️ www.nature.com/articles/s41...

📢 The ESHG recommendations on cascade testing to identify relatives at high genetic risk suggest that an active approach, such as directive counselling, is appropriate in cases of high risk of serious, avoidable harm. @eshg.bsky.social www.nature.com/articles/s41...

📢 RP9 revisited: cleaning up the human genetics literature to improve diagnostic outcomes #RP9 #RetinitisPigmentosa #Genetics #RareDisease www.nature.com/articles/s41...

📢 Could truncating #SRRM1 variants be a hidden cause of neurodevelopmental disorders? 🧬🧠 #Genetics #Neurodevelopment #RareDisease Read more ➡️ www.nature.com/articles/s41...

📢 How do different RAF1 variants shape #NoonanSyndrome ? Are Heart issues or neurodevelopmental disorders more common? 🧬 #Genetics #Cardiology #RareDiseases www.nature.com/articles/s41...

📢 How do different RAF1 variants shape #NoonanSyndrome ? Are Heart issues or neurodevelopmental disorders more common? 🧬 #Genetics #Cardiology #RareDiseases www.nature.com/articles/s41...

📢 The latest issue of #EJHG is now online. Highlighting novel genes and genotype–phenotype relationships, and advances in clinical and population genomics. 🧬 Read more in the February issue! ⬇️ www.nature.com/ejhg/volumes...

📢 The latest issue of #EJHG is now online. Highlighting novel genes and genotype–phenotype relationships, and advances in clinical and population genomics. 🧬 Read more in the February issue! ⬇️ www.nature.com/ejhg/volumes...

💬 We would like to hear your thoughts! How do you see this technology shaping acute genomic diagnostics in routine care? Share your views!

💬 We would like to hear your thoughts! How do you see this technology shaping acute genomic diagnostics in routine care? Share your views!

Welcome to this month’s #JournalClub! 🧬 📢 We are discussing: "Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making" from our January issue of #EJHG www.nature.com/articles/s41...

Could a rare-disease patient passport streamline care? 🧬 📢 Pilot study shows it improves communication, confidence, and access to care for patients & caregivers. #RareDisease #PatientExperience #HealthcareInnovation Find out more ➡️ www.nature.com/articles/s41...

Could a rare-disease patient passport streamline care? 🧬 📢 Pilot study shows it improves communication, confidence, and access to care for patients & caregivers. #RareDisease #PatientExperience #HealthcareInnovation Find out more ➡️ www.nature.com/articles/s41...

Genetic counselling boosts knowledge & mental wellbeing in familial colorectal cancer. 🧬 📢 This first RCT confirms its benefits for both affected & at-risk individuals. #Genetics #ColorectalCancer To read more: www.nature.com/articles/s41...

Genetic counselling boosts knowledge & mental wellbeing in familial colorectal cancer. 🧬 📢 This first RCT confirms its benefits for both affected & at-risk individuals. #Genetics #ColorectalCancer To read more: www.nature.com/articles/s41...

Could PKD1 5′UTR variants be the hidden cause in undiagnosed #ADPKD? 🧬 📢 New study shows rare regulatory variants reduce polycystin-1 expression, opening diagnostic & therapeutic avenues. #Genomics #RareDisease www.nature.com/articles/s41...

Could PKD1 5′UTR variants be the hidden cause in undiagnosed #ADPKD? 🧬 📢 New study shows rare regulatory variants reduce polycystin-1 expression, opening diagnostic & therapeutic avenues. #Genomics #RareDisease www.nature.com/articles/s41...

📢 Homozygous WSB2 variants cause a novel neurodevelopmental disorder with hypotonia, microcephaly & brain abnormalities. 🧬 Mouse models recapitulate key features. #Genetics #Neurodevelopment #RareDisease www.nature.com/articles/s41...

📢 Homozygous WSB2 variants cause a novel neurodevelopmental disorder with hypotonia, microcephaly & brain abnormalities. 🧬 Mouse models recapitulate key features. #Genetics #Neurodevelopment #RareDisease www.nature.com/articles/s41...

Who decides which additional genomic findings should be returned? 🧬 📢 A systematic review of more than 71,000 participants shows a strong preference for choice, actionable results, and familial relevance. #Genomics #PatientChoice #PrecisionMedicine ➡️ www.nature.com/articles/s41...

Who decides which additional genomic findings should be returned? 🧬 📢 A systematic review of more than 71,000 participants shows a strong preference for choice, actionable results, and familial relevance. #Genomics #PatientChoice #PrecisionMedicine ➡️ www.nature.com/articles/s41...

📢 The January issue is now online! 🧬 Recent studies, new perspectives, and key advances in #HumanGenetics, all in the first issue of the year ⬇️ www.nature.com/ejhg/volumes...

📢 The January issue is now online! 🧬 Recent studies, new perspectives, and key advances in #HumanGenetics, all in the first issue of the year ⬇️ www.nature.com/ejhg/volumes...

#KAND is a rare, devastating, #childhood-onset brain disorder. 📢 This review sheds light on what causes it, how it progresses, and the urgent need for treatments 🧠 🧬 #RareDisease #Neurogenetics Read the full text to find out more and help raise awareness ⬇️ www.nature.com/articles/s41...

#KAND is a rare, devastating, #childhood-onset brain disorder. 📢 This review sheds light on what causes it, how it progresses, and the urgent need for treatments 🧠 🧬 #RareDisease #Neurogenetics Read the full text to find out more and help raise awareness ⬇️ www.nature.com/articles/s41...

Each gene tells its own growth story. 🧬 📢 Commentary on the study introduces gene-specific growth charts using the innovative LMSz method. Redefining how we track growth in children with rare NDDs. #Genetics #Neurodevelopment #PrecisionMedicine ➡️ www.nature.com/articles/s41...

Each gene tells its own growth story. 🧬 📢 Commentary on the study introduces gene-specific growth charts using the innovative LMSz method. Redefining how we track growth in children with rare NDDs. #Genetics #Neurodevelopment #PrecisionMedicine ➡️ www.nature.com/articles/s41...

📢 Nearly half of married couples are related in Sudan. Awareness of genetic risks is low, but 85% believe premarital genetic screening ( #PMGS) can help reduce #genetic diseases 🧬 ➡️ www.nature.com/articles/s41...

📢 Remnants of Proto-Dravidian ancestry in the Koraga tribe of South India 🧬 @jaisonjseq.bsky.social Read more ➡️ www.nature.com/articles/s41...

📢 A new study confirms the “second-hit” model in Hereditary Haemorrhagic Telangiectasia ( #HHT): Multiple lesion-specific ACVRL1 mutations were found in one patient, supporting the somatic mutation-driven formation of telangiectasias and AVMs 🧬 #VascularBiology #EJHG www.nature.com/articles/s41...

📢 Incidental findings of autosomal dominant #AlportSyndrome in reproductive carrier screening offer a unique chance to protect kidney health early 🧬 Discover how a small step can lead to a significant impact ⬇️ #Genetics #KidneyHealth www.nature.com/articles/s41...

#HappyNewYear! 🎉🧬 📢 The #EJHG is also on LinkedIn and Instagram! Follow us for updates, highlights, and scientific conversations in 2026 ⬇️ 🔗 LinkedIn: www.linkedin.com/in/ejhg-euro... 🔗 Instagram: www.instagram.com/ejhg.journal/ Here’s to a science-filled year ahead ✨ #Genetics

#HappyNewYear! 🎉🧬 📢 The #EJHG is also on LinkedIn and Instagram! Follow us for updates, highlights, and scientific conversations in 2026 ⬇️ 🔗 LinkedIn: www.linkedin.com/in/ejhg-euro... 🔗 Instagram: www.instagram.com/ejhg.journal/ Here’s to a science-filled year ahead ✨ #Genetics

📢 Welcome to our December #JournalClub! 🧬 This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...

🎉✨ Happy New Year from ESHG! It’s the last day of the year—but not too late to renew (or re-join) your ESHG membership for 2026 and avoid interruption of your access to the European Journal of Human Genetics (@ejhg-journal.bsky.social). Start the new year with us! 🧬

📢 Welcome to our December #JournalClub! 🧬 This month, we’re discussing: "PIGC-related encephalopathy: Lessons learned from 18 new probands" from the latest issue of #EJHG 🔗 www.nature.com/articles/s41...

📢 Clinical heterogeneity of Xia-Gibbs syndrome: A review of 85 cases identifies three main phenotypic subtypes 🧬 ⬇️ #Genetics #RareDisease #XGS www.nature.com/articles/s41...

📢 Clinical heterogeneity of Xia-Gibbs syndrome: A review of 85 cases identifies three main phenotypic subtypes 🧬 ⬇️ #Genetics #RareDisease #XGS www.nature.com/articles/s41...

📢 Clinical exome sequencing identified 27% of Congenital Anomalies of the Kidney and Urinary Tract ( #CAKUT) cases, surpassing standard gene panels. 🧬 #Genetics #RareDisease New risk genes have been uncovered ⬇️ www.nature.com/articles/s41...

📢 New insights into DLG3 variants reveal a broader, syndromic spectrum of X-linked Intellectual Developmental Disorder 90. 🧬 #Genetics #RareDisease #Neurodevelopment www.nature.com/articles/s41...

📢 New insights into DLG3 variants reveal a broader, syndromic spectrum of X-linked Intellectual Developmental Disorder 90. 🧬 #Genetics #RareDisease #Neurodevelopment www.nature.com/articles/s41...

📢 Whole-exome sequencing in 506 patients with #InheritedRetinalDisease shows approximately 50% diagnostic yield. 🧬 Early onset & family history boost detection, while heterogeneous diseases remain challenging. #Genetics #PrecisionMedicine www.nature.com/articles/s41...

📢 Fragile X without the repeat expansion? 🧬 A rare FMR1 missense variant (p.Gln167Pro) may cause #FragileX features. ⬇️ www.nature.com/articles/s41...

📢 How do patients feel about genomic testing in primary care? Are we ready for genomic medicine at the frontline? 🧬 #Genomics #PrimaryCare #PatientExperience Read more ➡️ www.nature.com/articles/s41...

📢 How do patients feel about genomic testing in primary care? Are we ready for genomic medicine at the frontline? 🧬 #Genomics #PrimaryCare #PatientExperience Read more ➡️ www.nature.com/articles/s41...

📢 The December issue of #EJHG is online! 🧬 New genes, new discoveries, new insights in #HumanGenetics ⬇️⬇️⬇️ www.nature.com/ejhg/volumes...

📢 The December issue of #EJHG is online! 🧬 New genes, new discoveries, new insights in #HumanGenetics ⬇️⬇️⬇️ www.nature.com/ejhg/volumes...

📢 Welcome to this month’s #JournalClub! 🧬 We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG www.nature.com/articles/s41...

📢 Welcome to this month’s #JournalClub! 🧬 We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG www.nature.com/articles/s41...