Mohamed Wafik

🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics 🇬🇧 🇪🇬🔬

[Mohamed Wafik @mo__wafik]

📢 Join us now at the #eshg2026 Social Media Workshop! 📱✨

🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.

@JamesFasham
@aleenamolbio
@TWright_GenomeX

[European Society of Human Genetics (ESHG) @eshgsociety]

Let's celebrate the diversity at #eshg2026.
Show us your country's hidden gem! Reply with a photo of your favourite place, food, or anything you are proud of.

Look at the map below to see where participants this year are from.

[James Fasham @JamesFasham]

Just catching up on some DECIPHER❤️ in the NMD session at #ESHG2026:

Francisca Millan "I would like to start with this wonderful overview that DECIPHER provides. Per-gene, it summarizes all the gene-disease associations"

😊

(I assist @deciphergenomic team in an unpaid role)

[Mohamed Wafik @mo__wafik]

#eshg2026 day 3!

🧬 Really enjoyed the Mendelian Disorders session at #eshg2026 this morning.

Fascinating talks on DHX36, RLF, MACROH2A1, LDB1 and CHD3, showing how novel disease gene discovery is increasingly being linked to underlying epigenetic and transcriptomic mechanisms

[Mohamed Wafik @mo__wafik]

🧬 Fascinating #esh2026 session on RNA splicing and rare disease genetics. From RNU2-2–related disorders to SpliceAI triaging and iPSC-derived brain models.

Understanding splicing is transforming diagnosis and therapeutic discovery 🚀🔬 #RareDisease #Genomics

[European Society of Human Genetics (ESHG) @eshgsociety]

🎉 Onsite Registration is open for #eshg2026!

📍 Hall D, Svenska Mässan (Entrance 8)

Getting ready is easy:

1️⃣ Scan your QR code and print your badge
2️⃣ Grab a lanyard
3️⃣ Get your conference bag and fill it

Avoid the queues tomorrow and collect your badge today until 18:00.

[Mohamed Wafik @mo__wafik]

🧬 #eshg2026 Prof Hingroani 🇬🇧 on polygenic risk scores for screening and common disease prediction.

Strong data and interesting discussion: are we expecting too much from PRS? 🤔 📊

#GenomicMedicine #PRS

[European Society of Human Genetics (ESHG) @eshgsociety]

Do not miss your favourite sessions and presentations by creating your own personalised programme on the #eshg2026 virtual platform or ESHG mobile app:

https://t.co/lISd1NRnsL

[Mohamed Wafik @mo__wafik]

🧬 #eshg2026 interesting session on ethics & equity in genomics publishing:

👥 Involving citizens in publishing research
✍️ Editorial experiences of negative author behaviours
🌏 Inclusivity in genomics publishing
🔒 Privacy concerns and reproductive health equity

[James Fasham @JamesFasham]

Connor Whelan (Mass General)

Non-invasive fetal sequencing (NIFS) 👶
Validation study - confirmed with invasive

n = 565, NIFS identified 97% reportable variants detected by invasive test

👍 AD (de Novo, pat inh), CNVs >1 Mb, XL
🤔 AR, egg donor, UPD, molar twin

#ESHG2026

[European Society of Human Genetics (ESHG) @eshgsociety]

🏆 Win 2 networking event tickets for #eshg2027 in Rotterdam!

Enter the #eshg2026 Photo Competition:
📸 Best Selfie
😂 Funniest Picture
💻 Best Online Setup

Post on LinkedIn or Instagram with #eshg2026 before the conference ends. Finalists will be voted on by the ESHG community

[European Society of Human Genetics (ESHG) @eshgsociety]

🧠 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.

https://t.co/2OMUEry99b

[European Society of Human Genetics (ESHG) @eshgsociety]

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

Winner: Emre Akbas, Eskisehir, Turkey

[European Society of Human Genetics (ESHG) @eshgsociety]

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

[European Society of Human Genetics (ESHG) @eshgsociety]

#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"

[European Society of Human Genetics (ESHG) @eshgsociety]

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"

[European Society of Human Genetics (ESHG) @eshgsociety]

#ESHG2025 Isabelle Oberlé Award:
Best presentation by 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"

[European Society of Human Genetics (ESHG) @eshgsociety]

#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"

[European Society of Human Genetics (ESHG) @eshgsociety]

#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)"

[European Society of Human Genetics (ESHG) @eshgsociety]

#ESHG2025 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"