European Society of Human Genetics
@eshg.bsky.social
The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
Abstract submission deadline extended to Monday, February 16, 23:59 hrs CET (no exceptions). Last chance to submit an abstract for inclusion in the programme of #eshg2026 #hybridconference! More information on: 2026.eshg.org/abstracts/
February 12, 2026 at 1:56 PM
Abstract submission deadline extended to Monday, February 16, 23:59 hrs CET (no exceptions). Last chance to submit an abstract for inclusion in the programme of #eshg2026 #hybridconference! More information on: 2026.eshg.org/abstracts/
⏰ Tomorrow is the deadline!
Submit your abstract for #eshg2026 by Thursday, 12 February 2026, 23:59 CET 🗓️
Don’t miss the opportunity to showcase your research and be part of the #HybridConference.
📲 Details on the conference website: 2026.eshg.org/abstracts/
Submit your abstract for #eshg2026 by Thursday, 12 February 2026, 23:59 CET 🗓️
Don’t miss the opportunity to showcase your research and be part of the #HybridConference.
📲 Details on the conference website: 2026.eshg.org/abstracts/
February 11, 2026 at 2:55 PM
⏰ Tomorrow is the deadline!
Submit your abstract for #eshg2026 by Thursday, 12 February 2026, 23:59 CET 🗓️
Don’t miss the opportunity to showcase your research and be part of the #HybridConference.
📲 Details on the conference website: 2026.eshg.org/abstracts/
Submit your abstract for #eshg2026 by Thursday, 12 February 2026, 23:59 CET 🗓️
Don’t miss the opportunity to showcase your research and be part of the #HybridConference.
📲 Details on the conference website: 2026.eshg.org/abstracts/
Save the Date: ESHG Webinar Series
🗓️ 25 Feb 2026 | 16:00 CET
🧬 Genomic Newborn Screening: opportunities & challenges
🎤 Amanda Pichini (Genomics England)
💬 Reactions from James R. Bonham (International Society of Neonatal Screening) & Gulcin Gumus (EURORDIS)
🔗 www.eshg.org/webinarseries
🗓️ 25 Feb 2026 | 16:00 CET
🧬 Genomic Newborn Screening: opportunities & challenges
🎤 Amanda Pichini (Genomics England)
💬 Reactions from James R. Bonham (International Society of Neonatal Screening) & Gulcin Gumus (EURORDIS)
🔗 www.eshg.org/webinarseries
February 9, 2026 at 2:09 PM
Save the Date: ESHG Webinar Series
🗓️ 25 Feb 2026 | 16:00 CET
🧬 Genomic Newborn Screening: opportunities & challenges
🎤 Amanda Pichini (Genomics England)
💬 Reactions from James R. Bonham (International Society of Neonatal Screening) & Gulcin Gumus (EURORDIS)
🔗 www.eshg.org/webinarseries
🗓️ 25 Feb 2026 | 16:00 CET
🧬 Genomic Newborn Screening: opportunities & challenges
🎤 Amanda Pichini (Genomics England)
💬 Reactions from James R. Bonham (International Society of Neonatal Screening) & Gulcin Gumus (EURORDIS)
🔗 www.eshg.org/webinarseries
⏰ Deadline approaching!
Only 1 week left to submit your abstract for #eshg2026, our #HybridConference in Gothenburg.
🗓️ Submit by Thursday, 12 February 2026, 23:59 CET
👉 All details: 2026.eshg.org/abstracts/
Only 1 week left to submit your abstract for #eshg2026, our #HybridConference in Gothenburg.
🗓️ Submit by Thursday, 12 February 2026, 23:59 CET
👉 All details: 2026.eshg.org/abstracts/
February 5, 2026 at 1:19 PM
⏰ Deadline approaching!
Only 1 week left to submit your abstract for #eshg2026, our #HybridConference in Gothenburg.
🗓️ Submit by Thursday, 12 February 2026, 23:59 CET
👉 All details: 2026.eshg.org/abstracts/
Only 1 week left to submit your abstract for #eshg2026, our #HybridConference in Gothenburg.
🗓️ Submit by Thursday, 12 February 2026, 23:59 CET
👉 All details: 2026.eshg.org/abstracts/
🎥 Episode 1 of the 2026 #ESHG Webinar Series with Sarah Norris is now available on YouTube!
🧬 This episode explores the benefits, risks and challenges of sequencing the genome of newborns.
▶️ Watch here: youtu.be/t4FF9PeWglw?...
🧬 This episode explores the benefits, risks and challenges of sequencing the genome of newborns.
▶️ Watch here: youtu.be/t4FF9PeWglw?...
ESHG Webinar Series Season 2 Episode 1 with Sarah Norris
The benefits, risks and challenges of sequencing the genome of newborns
Sarah will present findings from an Australian government funded project (genomics4newborns) that is exploring the…
youtu.be
February 3, 2026 at 3:56 PM
🎥 Episode 1 of the 2026 #ESHG Webinar Series with Sarah Norris is now available on YouTube!
🧬 This episode explores the benefits, risks and challenges of sequencing the genome of newborns.
▶️ Watch here: youtu.be/t4FF9PeWglw?...
🧬 This episode explores the benefits, risks and challenges of sequencing the genome of newborns.
▶️ Watch here: youtu.be/t4FF9PeWglw?...
📢 Paper alert:
AlphaGenome offers a valuable tool for deciphering non-coding variant effects by unifying multimodal prediction, long-sequence context and base-pair resolution into a single framework.
Full article in Nature:
www.nature.com/articles/s41...
AlphaGenome offers a valuable tool for deciphering non-coding variant effects by unifying multimodal prediction, long-sequence context and base-pair resolution into a single framework.
Full article in Nature:
www.nature.com/articles/s41...
January 30, 2026 at 10:44 AM
📢 Paper alert:
AlphaGenome offers a valuable tool for deciphering non-coding variant effects by unifying multimodal prediction, long-sequence context and base-pair resolution into a single framework.
Full article in Nature:
www.nature.com/articles/s41...
AlphaGenome offers a valuable tool for deciphering non-coding variant effects by unifying multimodal prediction, long-sequence context and base-pair resolution into a single framework.
Full article in Nature:
www.nature.com/articles/s41...
⏰ Only two more weeks to go!
The abstract submission deadline for #ESHG2026 #HybridConference is fast approaching.
🗓️ Deadline: Thursday, 12 February 2026, 23:59 CET
Don’t forget to submit your abstract!
👉 All details here: 2026.eshg.org/abstracts/
The abstract submission deadline for #ESHG2026 #HybridConference is fast approaching.
🗓️ Deadline: Thursday, 12 February 2026, 23:59 CET
Don’t forget to submit your abstract!
👉 All details here: 2026.eshg.org/abstracts/
January 30, 2026 at 9:22 AM
⏰ Only two more weeks to go!
The abstract submission deadline for #ESHG2026 #HybridConference is fast approaching.
🗓️ Deadline: Thursday, 12 February 2026, 23:59 CET
Don’t forget to submit your abstract!
👉 All details here: 2026.eshg.org/abstracts/
The abstract submission deadline for #ESHG2026 #HybridConference is fast approaching.
🗓️ Deadline: Thursday, 12 February 2026, 23:59 CET
Don’t forget to submit your abstract!
👉 All details here: 2026.eshg.org/abstracts/
The abstract book of #eshg2025 has just been published!
Explore the latest research here 👉 www.nature.com/collections/...
Explore the latest research here 👉 www.nature.com/collections/...
January 19, 2026 at 8:33 AM
The abstract book of #eshg2025 has just been published!
Explore the latest research here 👉 www.nature.com/collections/...
Explore the latest research here 👉 www.nature.com/collections/...
👥Guidance for practice: ERN GENTURIS publishes a new guideline on reproductive counselling for individuals with cancer predisposition syndromes and their family members, aiming to improve consistency, quality, and patient-centred care.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis) - European Journal of Human Genetics
European Journal of Human Genetics - ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)
www.nature.com
January 16, 2026 at 10:04 AM
👥Guidance for practice: ERN GENTURIS publishes a new guideline on reproductive counselling for individuals with cancer predisposition syndromes and their family members, aiming to improve consistency, quality, and patient-centred care.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
🎥 The ESHG Webinar Series returns with Season 2 (2026)!
🗓️ Wednesday, 28 January | 14:00 CET
🎙️ Sarah Norris (Univ. of Sydney)
🧬 Newborn genome sequencing: benefits, risks & challenges
✅ Free to attend | 🔗 Zoom link will be on our website
🔔 Register for reminders: wma.eventsair.com/eshg-webinar...
🗓️ Wednesday, 28 January | 14:00 CET
🎙️ Sarah Norris (Univ. of Sydney)
🧬 Newborn genome sequencing: benefits, risks & challenges
✅ Free to attend | 🔗 Zoom link will be on our website
🔔 Register for reminders: wma.eventsair.com/eshg-webinar...
January 13, 2026 at 12:35 PM
🎥 The ESHG Webinar Series returns with Season 2 (2026)!
🗓️ Wednesday, 28 January | 14:00 CET
🎙️ Sarah Norris (Univ. of Sydney)
🧬 Newborn genome sequencing: benefits, risks & challenges
✅ Free to attend | 🔗 Zoom link will be on our website
🔔 Register for reminders: wma.eventsair.com/eshg-webinar...
🗓️ Wednesday, 28 January | 14:00 CET
🎙️ Sarah Norris (Univ. of Sydney)
🧬 Newborn genome sequencing: benefits, risks & challenges
✅ Free to attend | 🔗 Zoom link will be on our website
🔔 Register for reminders: wma.eventsair.com/eshg-webinar...
📣 Poster Abstract Submission Reminder
Poster abstract submissions for our partners’ ECRD 2026 are open until 6 March 2026! Patient groups, researchers & healthcare professionals are encouraged to submit.
🔗 More info: www.rare-diseases.eu/posters/
Poster abstract submissions for our partners’ ECRD 2026 are open until 6 March 2026! Patient groups, researchers & healthcare professionals are encouraged to submit.
🔗 More info: www.rare-diseases.eu/posters/
January 12, 2026 at 1:02 PM
📣 Poster Abstract Submission Reminder
Poster abstract submissions for our partners’ ECRD 2026 are open until 6 March 2026! Patient groups, researchers & healthcare professionals are encouraged to submit.
🔗 More info: www.rare-diseases.eu/posters/
Poster abstract submissions for our partners’ ECRD 2026 are open until 6 March 2026! Patient groups, researchers & healthcare professionals are encouraged to submit.
🔗 More info: www.rare-diseases.eu/posters/
🧾New study highlights the role of snRNA genes in Mendelian disease:
Heterozygous de novo and inherited variants in RNU4-2 and four RNU6 paralogs may explain up to 1.4% of previously unsolved cases of nonsyndromic retinitis pigmentosa.
www.nature.com/articles/s41...
Heterozygous de novo and inherited variants in RNU4-2 and four RNU6 paralogs may explain up to 1.4% of previously unsolved cases of nonsyndromic retinitis pigmentosa.
www.nature.com/articles/s41...
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa - Nature Genetics
De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct…
www.nature.com
January 12, 2026 at 9:24 AM
🧾New study highlights the role of snRNA genes in Mendelian disease:
Heterozygous de novo and inherited variants in RNU4-2 and four RNU6 paralogs may explain up to 1.4% of previously unsolved cases of nonsyndromic retinitis pigmentosa.
www.nature.com/articles/s41...
Heterozygous de novo and inherited variants in RNU4-2 and four RNU6 paralogs may explain up to 1.4% of previously unsolved cases of nonsyndromic retinitis pigmentosa.
www.nature.com/articles/s41...
🧬New Solve-RD study (18,462 individuals) provides practical recommendations for TTN variant interpretation and reporting in clinical genomic testing, from rare disease diagnostics to secondary findings and preconception counselling.
#TTN #GenomicMedicine
www.sciencedirect.com/science/arti...
#TTN #GenomicMedicine
www.sciencedirect.com/science/arti...
www.sciencedirect.com
January 9, 2026 at 10:42 AM
🧬New Solve-RD study (18,462 individuals) provides practical recommendations for TTN variant interpretation and reporting in clinical genomic testing, from rare disease diagnostics to secondary findings and preconception counselling.
#TTN #GenomicMedicine
www.sciencedirect.com/science/arti...
#TTN #GenomicMedicine
www.sciencedirect.com/science/arti...
📣New in EJHG:
In 38 RD-Connect cases with candidate genotypes in 10 mt-aaRS genes, a phenotype similarity score against a literature-curated HPO reference supported ACMG PP4 evidence, improving yield and offering a reusable framework for other cohorts.
www.nature.com/articles/s41...
In 38 RD-Connect cases with candidate genotypes in 10 mt-aaRS genes, a phenotype similarity score against a literature-curated HPO reference supported ACMG PP4 evidence, improving yield and offering a reusable framework for other cohorts.
www.nature.com/articles/s41...
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are a group of proteins encoded by nuclear DNA that play a crucial role in mitochondrial protein synthesis. Mitochondrial diseases caused by mt-aaRS...
www.nature.com
January 5, 2026 at 2:31 PM
📣New in EJHG:
In 38 RD-Connect cases with candidate genotypes in 10 mt-aaRS genes, a phenotype similarity score against a literature-curated HPO reference supported ACMG PP4 evidence, improving yield and offering a reusable framework for other cohorts.
www.nature.com/articles/s41...
In 38 RD-Connect cases with candidate genotypes in 10 mt-aaRS genes, a phenotype similarity score against a literature-curated HPO reference supported ACMG PP4 evidence, improving yield and offering a reusable framework for other cohorts.
www.nature.com/articles/s41...
📢 Out in AJHG:
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
www.cell.com
January 2, 2026 at 10:30 AM
📢 Out in AJHG:
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
🎉✨ 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! 🧬
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! 🧬
December 31, 2025 at 2:02 PM
🎉✨ 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! 🧬
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! 🧬
📝 Registration is Open!
Registration for our partners’ European Conference on Rare Diseases & Orphan Products (ECRD), taking place 3–4 June 2026 in Prague & online, is now open.
💡 Register before 26 Feb 2026 to benefit from Early-Bird rates!
🔗 www.rare-diseases.eu/register/
Registration for our partners’ European Conference on Rare Diseases & Orphan Products (ECRD), taking place 3–4 June 2026 in Prague & online, is now open.
💡 Register before 26 Feb 2026 to benefit from Early-Bird rates!
🔗 www.rare-diseases.eu/register/
December 28, 2025 at 8:00 AM
📝 Registration is Open!
Registration for our partners’ European Conference on Rare Diseases & Orphan Products (ECRD), taking place 3–4 June 2026 in Prague & online, is now open.
💡 Register before 26 Feb 2026 to benefit from Early-Bird rates!
🔗 www.rare-diseases.eu/register/
Registration for our partners’ European Conference on Rare Diseases & Orphan Products (ECRD), taking place 3–4 June 2026 in Prague & online, is now open.
💡 Register before 26 Feb 2026 to benefit from Early-Bird rates!
🔗 www.rare-diseases.eu/register/
🎄✨ Happy Holidays from ESHG!
We wish you a joyful holiday season, time to relax, and a refreshing start to the new year. Thank you for being part of our community!
We wish you a joyful holiday season, time to relax, and a refreshing start to the new year. Thank you for being part of our community!
December 24, 2025 at 8:00 AM
🎄✨ Happy Holidays from ESHG!
We wish you a joyful holiday season, time to relax, and a refreshing start to the new year. Thank you for being part of our community!
We wish you a joyful holiday season, time to relax, and a refreshing start to the new year. Thank you for being part of our community!
📺 Now Online! Episodes 7 (Elfride de Baere) & 8 (Lisenka Vissers) of the ESHG Webinar Series are now available on YouTube: buff.ly/T5HTfyr
Zoom links for 2026 webinars will be shared on our website.
Sign up to receive reminders and updates: buff.ly/Hq48zjs
Zoom links for 2026 webinars will be shared on our website.
Sign up to receive reminders and updates: buff.ly/Hq48zjs
December 22, 2025 at 4:05 PM
📺 Now Online! Episodes 7 (Elfride de Baere) & 8 (Lisenka Vissers) of the ESHG Webinar Series are now available on YouTube: buff.ly/T5HTfyr
Zoom links for 2026 webinars will be shared on our website.
Sign up to receive reminders and updates: buff.ly/Hq48zjs
Zoom links for 2026 webinars will be shared on our website.
Sign up to receive reminders and updates: buff.ly/Hq48zjs
📢 Save the Date!
Our partners are hosting the European Conference on Rare Diseases & Orphan Products (ECRD) on 3–4 June 2026 in Prague & online.
🧬 Rare Diseases in a Changing & Competitive Europe — shaping policies to address unmet needs.
🔗 More info: www.rare-diseases.eu
Our partners are hosting the European Conference on Rare Diseases & Orphan Products (ECRD) on 3–4 June 2026 in Prague & online.
🧬 Rare Diseases in a Changing & Competitive Europe — shaping policies to address unmet needs.
🔗 More info: www.rare-diseases.eu
December 19, 2025 at 1:33 PM
📢 Save the Date!
Our partners are hosting the European Conference on Rare Diseases & Orphan Products (ECRD) on 3–4 June 2026 in Prague & online.
🧬 Rare Diseases in a Changing & Competitive Europe — shaping policies to address unmet needs.
🔗 More info: www.rare-diseases.eu
Our partners are hosting the European Conference on Rare Diseases & Orphan Products (ECRD) on 3–4 June 2026 in Prague & online.
🧬 Rare Diseases in a Changing & Competitive Europe — shaping policies to address unmet needs.
🔗 More info: www.rare-diseases.eu
📣 The ESHG DNA Day Essay & Video Contest 2026 is open! A yearly contest for high school students—submit now until DNA Day, April 25, 2026. Help promote genetics across Europe: spread the word to schools & educators! 🧬 More information: www.dnaday.eu
December 18, 2025 at 9:07 AM
📣 The ESHG DNA Day Essay & Video Contest 2026 is open! A yearly contest for high school students—submit now until DNA Day, April 25, 2026. Help promote genetics across Europe: spread the word to schools & educators! 🧬 More information: www.dnaday.eu
ESHG Membership Renewals are now open for individuals in Europe & beyond, with updated membership categories and fees.
🔗 View categories and fees: www.eshg.org/membership/m...
🔗 Join or renew now: cpeople.ctimeetingtech.com/eshg/members...
✨ Happy Holidays — and see you in the new year!
🔗 View categories and fees: www.eshg.org/membership/m...
🔗 Join or renew now: cpeople.ctimeetingtech.com/eshg/members...
✨ Happy Holidays — and see you in the new year!
December 17, 2025 at 2:39 PM
ESHG Membership Renewals are now open for individuals in Europe & beyond, with updated membership categories and fees.
🔗 View categories and fees: www.eshg.org/membership/m...
🔗 Join or renew now: cpeople.ctimeetingtech.com/eshg/members...
✨ Happy Holidays — and see you in the new year!
🔗 View categories and fees: www.eshg.org/membership/m...
🔗 Join or renew now: cpeople.ctimeetingtech.com/eshg/members...
✨ Happy Holidays — and see you in the new year!
Abstract submission for #eshg2026 is open! The Scientific Programme Committee invites abstracts to be submitted for inclusion in the programme as posters or oral presentations until 12th February 2026. More information found on the conference website: 2026.eshg.org/abstracts/
Abstracts
Regular abstract submission for ESHG 2026 is now open. The deadline for abstract submission is Thursday, February 12, 2026, 23.59 hrs CET. Notifications about the outcome of the abstract assessment…
2026.eshg.org
December 15, 2025 at 2:59 PM
Abstract submission for #eshg2026 is open! The Scientific Programme Committee invites abstracts to be submitted for inclusion in the programme as posters or oral presentations until 12th February 2026. More information found on the conference website: 2026.eshg.org/abstracts/
🧬Pathogenic variants in snRNA genes seem to be a more frequent cause of Mendelian disorders than previously thought, with major relevance for #NDDs and retinal disease.
This Review summarizes recent advances and future perspectives in the field:
📄 www.nature.com/articles/s41...
This Review summarizes recent advances and future perspectives in the field:
📄 www.nature.com/articles/s41...
Small nuclear RNA genes in Mendelian disorders - Nature Genetics
This Review discusses the high-impact variants in 12 small nuclear RNA genes that cause Mendelian disorders with either autosomal dominant or recessive inheritance patterns, highlighting the…
www.nature.com
December 12, 2025 at 2:25 PM
🧬Pathogenic variants in snRNA genes seem to be a more frequent cause of Mendelian disorders than previously thought, with major relevance for #NDDs and retinal disease.
This Review summarizes recent advances and future perspectives in the field:
📄 www.nature.com/articles/s41...
This Review summarizes recent advances and future perspectives in the field:
📄 www.nature.com/articles/s41...
Reposted by European Society of Human Genetics
📢 The December issue of #EJHG is online! 🧬
New genes, new discoveries, new insights in #HumanGenetics
⬇️⬇️⬇️
www.nature.com/ejhg/volumes...
New genes, new discoveries, new insights in #HumanGenetics
⬇️⬇️⬇️
www.nature.com/ejhg/volumes...
December 8, 2025 at 8:28 AM
📢 The December issue of #EJHG is online! 🧬
New genes, new discoveries, new insights in #HumanGenetics
⬇️⬇️⬇️
www.nature.com/ejhg/volumes...
New genes, new discoveries, new insights in #HumanGenetics
⬇️⬇️⬇️
www.nature.com/ejhg/volumes...