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Posts by European Society of Human Genetics

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⏳ 1 week to go!
Submit your work for the #ESHG2026 Breaking Abstracts session on June 15, 10:30–12:00 CEST and share your latest research.

πŸ“… Submission Deadline: April 28, 2026 (23:59 CEST) – no extension!

πŸ”— Learn more & submit: 2026.eshg.org/abstracts/br...

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Irish Society of Human Genetics (@ishg.ie) will be holding its annual meeting this year at the Royal College of Surgeons in Ireland in Dublin on September the 4th. Early bird tickets open on June 1st and the abstract submission deadline is June 12th.
ishg.ie/conference

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Join us in Gothenburg or online for the #ESHG2026 hybrid conference πŸŒπŸ’»

⏰ The Early Bird registration rate is available only today β€” until April 16, 2026, 23:59 CEST.

Don’t miss your chance to be part of this leading event in human genetics.

Register now: 2026.eshg.org/registration/

5 days ago 0 1 0 0
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Submit your Breaking Abstract to #ESHG2026!

πŸ—“ Be part of the β€œLate Breaking Abstracts” session on June 15 (10:30–12:00 CEST)

🚨 Deadline: April 28, 23:59 CEST (no extension!)

πŸ”— 2026.eshg.org/abstracts/br...

1 week ago 1 2 0 0
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Only 1 week left to register at a reduced rate for #eshg2026

The conference will take place physically in Gothenburg, Sweden but will be completely live streamed through our virtual conference platform.

Early fee deadline: April 16, 2026 at 23:59 CEST.

Register today: 2026.eshg.org/registration/

1 week ago 3 3 0 0
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A few spots left for our pre-conference courses in Gothenburg (June 12, Svenska MΓ€ssan):

πŸ”Ή Teach the Teacher Genetics
πŸ”Ή Unleashing the Power of Large-Scale Genomic Public Databases

A separate registration is required.

Register now: 2026.eshg.org/satellite-me...

#Genetics #Genomics #eshg2026

1 week ago 2 2 0 1
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🧬 Join our next ESHG Webinar!

πŸ“… 29 April 2026 | 16:00 CEST
🎀 Alexandre Reymond (University of Lausanne, Switzerland)
πŸ“’ Variable expressivity and pleiotropy of 16p11.2 recurrent CNVs

Free Zoom webinar. Sign up for updates & reminders.
πŸ”— www.eshg.org/webinarseries

1 week ago 0 0 0 0
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3rd ESHG Training Course on Pharmacogenomics - Manchester Rare Conditions Centre πŸ“ Date: Wednesday 11 – Friday 13 November 2026 🌎 Location: Renold Building, Sister, 32a Altrincham St, Manchester M1 7JR, UK 🧬 Format: In-Person | Duration: 3 Days

πŸ“’ Register now!

Join the 3rd ESHG Training Course on Pharmacogenomics
πŸ“… 11–13 November 2026
πŸ“ Manchester, UK

🧬3-day in-person course on how pharmacogenomics can be applied in clinical practice

πŸ”— Programme & registration: www.mrcc.org.uk/events/eshg-...

#ESHG #Genetics #Genomes #Pharmacogenomics

2 weeks ago 1 1 0 0
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🧬 Tools for Communication & Competency Skills in Genetic Counselling Course
πŸ“… 15–19 Nov 2026 | πŸ“ Bertinoro, Italy
For genetic counsellors & professionals seeking to strengthen communication in clinical practice.
ESHG fellowships available
⚠ Limited to 35 participants
buff.ly/71S7RLC

2 weeks ago 0 1 0 0
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🚨 Registration & fellowship applications are now open!

Hereditary Cancer Genetics Course
πŸ“ Bertinoro, Italy
πŸ“… 22–25 Sept 2026

πŸ“ Register early (independant of fellowship application) – spots fill fast
πŸ“„ Apply for fellowship by 30 April
πŸ’» Virtual edition available

www.eshg.org/courses/here...

2 weeks ago 0 0 0 0
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies - Nature Genetics Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…

🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies.
Congratulations to all three teams!

πŸ‘‰ www.nature.com/articles/s41...
πŸ‘‰ www.nature.com/articles/s41...
πŸ‘‰ www.nature.com/articles/s41...

3 weeks ago 14 11 0 2
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Hello from Gothenburg! πŸ‡ΈπŸ‡ͺ
The ESHG team is at the last Site visit in Gothenburg to go through all the details for the conference #eshg2026. Looking forward to seeing you there!

Register and join us on-site in June: 2026.eshg.org/registration/

3 weeks ago 10 2 0 0
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The Scientific Programme Committee has now selected talks and posters for the #ehsg2026 Hybrid Conference. Notifications to authors are being sent within next week. See you in Gothenburg, June 13-16 for an exciting programme!

Register now and be a part of ESHG: 2026.eshg.org/registration/

3 weeks ago 1 0 0 0
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Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education Clear professional competencies and career pathways in variant interpretation (VI) are lacking. We co-developed learning outcomes in VI and describe how these can inform education and competencies…

🧬 Variant interpretation is central to genomic testing, yet professional competencies and training pathways remain limited.
πŸŽ“ This work defines learning outcomes to support education, build proficiency and help shape future competency frameworks.

www.cell.com/ajhg/fulltex...

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🧬 New EJHG study expands the phenotypic spectrum of PACS1-related disorder and identifies a disease-specific DNA methylation episignature. These findings will support assessment of non-recurrent PACS1 variants and improve diagnosis in unresolved NDDs.

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

3 weeks ago 1 1 0 0
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🌍 Can’t make it to Gothenburg? Join ESHG 2026 online!

πŸ’» Live-streamed sessions
πŸ“… 6 months on-demand access
🌐 Global genetics insights

πŸ‘‰ 2026.eshg.org/registration/

Reduced virtual registration fees for participants from low- & middle-income countries.

#eshg2026 #Genetics #Genomes #HumanGenetics

4 weeks ago 2 2 0 0
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Hereditary Cancer Genetics Course (22–25 Sept | Bertinoro)

πŸ—“ Registration & fellowship applications open April 1
πŸ“ Register early to secure a spot (independent of fellowship)
πŸ“„ Submit fellowship application by April 30 – start preparing CV, reference & motivation letter

More: buff.ly/bQ1tL8y

1 month ago 2 1 0 1
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Deadline extended ❗ Submit your dysmorphology case for #ESHG2026 until March 19! Cases of distinctive/rare dysmorphic patterns, from low/middle income countries, with prior #GestaltMatcher analysis or of significant academic/educational value will be prioritized. 2026.eshg.org/programme-at...

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Nature Awards for Inspiring Women in Science

ESHG encourages eligible early career female members to apply.

πŸ† Categories: Scientific Achievement & Science Outreach
πŸ’° Prize: USD 50,000 and recognition on nature.com
πŸ“… Deadline: 8 April 2026

natureawards.submittable.com/submit

1 month ago 1 0 0 0
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Tomorrow is the last day to submit your case for presentation in one of the Dysmorphology Interactive Sessions scheduled on Sat, June 13, 08:30 and Mon, June 15, 14:00 during the #ESHG2026 conference. Check the details and submit now: 2026.eshg.org/programme-at...

1 month ago 0 1 0 0
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We invite submissions of interesting oncogenetic cases for the interactive cancer case session at #ESHG2026. Submit a short abstract (max 200 words) describing an unsolved or educational solved case by March 23 (23:59 CET) to eshgcancercase@lumc.nl

More info: buff.ly/TI4X9Fg

1 month ago 0 0 0 0
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🧬 ESHG Webinar Series – Season 2, Episode 3

πŸ“… 25 March 2026 | 16:00 CET
🎀 Lili Milani, University of Tartu
πŸ“Š Pharmacogenomic studies in the Estonian Biobank

The webinar will take place via Zoom and is free to attend.

πŸ”— More information: www.eshg.org/webinarseries

@eshgyoung.bsky.social

1 month ago 4 3 0 1
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The ESHG Award, ELPAG Award and the Mendel Lecturers of the #eshg2026 #hybridconference have talked to Mary Rice. Read the interviews and find out more about their backgrounds: 2026.eshg.org/speakers/spe...

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🧬Introducing the 2026 Special Issue of the EJHG on DNA testing in public health screening programs. As screening moves from targeted testing to genome-wide approaches, key questions remain around benefit, harm, consent, equity, governance and follow-up.

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

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πŸ‘₯ Guidance for practice: the first international guideline for Kleefstra syndrome is now available.
πŸ“‹ It includes 66 tailored recommendations to support standardised care and improve clinical decision-making.
#RareDisease #Genetics

Full guideline: www.gimjournal.org/article/S109...

1 month ago 1 0 0 0
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πŸ“’ Deadline approaching: Call for Poster Abstract Submissions – ECRD 2026

Open to patient groups, academics, healthcare professionals & all working in rare diseases or public health.

πŸ—“ Deadline: 6 March
Submit here: www.rare-diseases.eu/posters/

#ECRD2026 #RareDiseases #OrphanProducts

1 month ago 0 0 0 0
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Pre-Conference Courses at #ESHG2026 – Registration is now open!

Join us in Gothenburg on June 11–12 for our on-site courses.

β€’ Clinical NGS Data Interpretation Course
β€’ Teach the Teacher Genetics
β€’ Unleashing the Power of Large-Scale Genomic Public Databases

2026.eshg.org/satellite-me...

1 month ago 0 0 0 0
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Have you already submitted your consented, distinctive unsolved or instructive solved cases to #ESHG2026? Submit today! The best case presentation from a trainee in medical/clinical genetics will receive the β€œDian Donnai and Jill Clayton-Smith” prize. 2026.eshg.org/programme-at...

1 month ago 0 0 0 0
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🧬 β€œNavigating the future of genetics” 2026 EuroGentest Webinar

Join us on April 1, 2026 (11:00–12:00 & 13:00–13:30 CEST) for key updates on quality assurance, regulations and professional standards in clinical and laboratory genetics.

Registration free, but mandatory: www.eshg.org/courses/eshg...

1 month ago 0 0 0 0
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3100+ abstracts submitted for #ESHG2026 β€” thank you! With such an exciting programme ahead, now is the time to secure your place at our #HybridConference. Registration is OPEN β€” benefit from the early bird fee until April 16, 2026 πŸ‘‰ 2026.eshg.org/registration/

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