Juliana Miranda Cerqueira

Welcome to the ESHG-Young team, Maria Francesca, Nelson, Mathys and Ewelina! Together, they represent the diversity, collaboration, and innovation driving the future of human genetics!

Get to know our four new members in these images:

@eshg.bsky.social

@ejhg-journal.bsky.social

#Genetics

Announcement for the in-person Human Gut Microbiome Metagenomics training. In-person course will take place: 12-17 April 2026 at KEMRI-Wellcome Trust Research Programme, Kenya Apply by 3 November.

Last call for #GutMetagenomics26 applications🧬

Apply for our free Human Gut Microbiome Metagenomics training in Africa, by 3 November ⏰

🗓️12-17 April 2026 + post-course mentoring and #SciComms skills development for #PublicHealth.
📍 @kemriwellcome.bsky.social

Find out more 👉🏾 bit.ly/4n00owP

Want to rewatch sessions from #ESHG2025 Milan?
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105

📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel

@eshg.bsky.social

📢 Join the @jacksonlab.bsky.social, the African Society of Human Genetics and @eshgyoung.bsky.social for our 2025 webinar series

🧬 Cell Modeling and Engineering for Rare Diseases 🧫
📅 Nov 5, 6, 12, 13
🕒 8–10 AM EST| 1–3 PM UTC| 3–5 PM CAT/EET

Register here: tinyurl.com/z9kkhw55

@eshg.bsky.social

🌟 Applications for the Mentorship & Observership Programmes by @ESHG

🌟 Gain hands-on experience, travel support & professional growth!
✈️ Apply by 30 Nov 2025. Notifications of acceptance by 15 Jan 2026.
⚠️ Check eligibility criteria and requirements.
More info in bio. #ESHG

👉 www.sciencedirect.com/bookseries/a...

📢 Thrilled to share the @Elsevier book 'The Emerging Genomic Landscape of Complex Immune-Mediated Traits' is out! 🧬 Honored to guest-edit & contribute a chapter. Big thanks to amazing collaborators across Europe & Brazil! #genomics #genetics #multiomics #celiacdisease #autoimmunity #bioinformatics

Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities.

See you all in Pavia for #EuroDysmorpho 2026!

@eshg.bsky.social @silk93.bsky.social

Farewell to Albert Schinzel, former President of ESHG 09/18/2025

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:

@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.

📢 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.

Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!

Artificial intelligence in clinical genetics - European Journal of Human Genetics European Journal of Human Genetics - Artificial intelligence in clinical genetics

🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes

🔗 Open-access review👇

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

ESHG: 2025 Press Releases The news that the Greek government has entrusted newborn screening to private organisations raises many concerns. Newborn screening is a vital public health initiative, and significant efforts are…

The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST!
🧬 Speaker: Kaitlin Samocha on variant interpretation using population data
💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar...
📩 Past registrants will receive the Zoom link automatically.

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.

🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.

This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes.

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

#CognitiveScience

We thank you @iamslambert.bsky.social for the incredible contribution to this course! A unique opportunity for attendees to gain insights into large-scale genomic databases like @pgscatalog.bsky.social. 🙌 #ESHG2025

Grateful to EduComm @eshg.bsky.social for this amazing opportunity. Huge thanks to @gosiatrynka.bsky.social for hosting me at @sangerinstitute.bsky.social and to my supervisor @KatriLindfors for her support. This observership has expanded my academic aspirations ahead for sure. #eshg2025

ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden

#ESHG2025

#ESHG2025 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2025

Winner: Emre Akbas, Eskisehir, Turkey

SHG2025 ELPAG Early Career Award
for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics

Tara Maria Hoffmann, Hamburg, Germany

"Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"

#ESHG2025 Mia Neri Award
for best presentation in cancer research.

Jingzhan Lu,Exeter, United Kingdom

"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

#ESHG2025 Vienna Medical Academy Award:
Best presentation in translational genetic reserach/therapy of genetic diseases.

Christina Marie Kajba, London, UK

"A pooled prime editing platform in haploid human cells for high throughput variant screening"

#ESHG2025 Lodewijk Sandkuijl Award:
Best presentation in the field of complex disease and statistical genetics.

Cal Liao, Cambridge, United States

"The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"

#ESHG2025 Isabelle Oberlé Award:
Best presentation by an ECR on research concerning the genetics of intellectual disability.

Natalie B. Tan, Parkville, Australia

"UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"

ESHG2025# Early Career awards:
For outstanding science presented at the conference

- Allison Newman, Exeter, UK
- Hristiana Lyubenova, Berlin, Germany
- Robin J. Hofmeister, Lausanne, Switzerland
- Pau Clavell-Revelles, Barcelona, Spain

Best Poster in Clinical Research

Rebeka Luknárová, Munich, Germany

P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"

#ESHG2025 Best Poster in Basic Research

Eva Vanbelleghem, Ghent, Belgium

P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"

#ESHG2025 Poster Prize: Honorary Mentions:
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)

GertJan van Ommen Citation Awards:

1. Analysis of large-language model versus human performance for genetics questions.
2. Dutch Pharmacogenetics Working Group (DPWG) guideline
3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing

#ESHG2025