Mohamed Wafik

🧠 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. nature.com/articles/s4156…

#ESHG2025 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2025 Winner: Emre Akbas, Eskisehir, Turkey

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

#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"

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 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"

#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 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 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"

Since 2018, the ESHG has been presenting the ELPAG Award to honour a scientist having made an important mark in the field of Ethical, Legal and Psychosocial Aspects of Genetics. #ESHG2025 ELPAG Award laureate: Sylvia Metcalfe (Melbourne, Australia)

ESHG Observership scheme awardees - Purvi Majethia India to Manchester, UK - Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden - Juliana Miranda Cerqueira Finland to Cambridge, UK - Vanessa Sousa Portugal to Leuven, Belgium - Sílvia Pires Portugal to Jena, Germany #ESHG2025

DNA Day 2025 - Essay Contest 1st Place: Snigdha Rai (IN) 2nd Place: Mei Bejdo (AL) 3rd Place: Basak Memiguven (TR) ESHG DNA Day 2025 - Video Contest 1st Place: Tanush Gupta (UK) 1st Place: Dakyung Yoon (KR) 3rd Place: Jaime Chan (UK) #ESHG2025

#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)

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

Gozde Imren #ESHG2025 Unraveling the Role of #RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia

Hristiana Lyubenova #ESHG2025 The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome A deep dive into uncovering the mechanism of this well-recognised condition

Eike Bolmer #ESHG2025 🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases ✋Using hand x-ray 🔴 Occlusion testing allows important region within the image to be defined (see below)

Chofit Chai #ESHG2025 Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome

Mathilde DOYARD #ESHG2025 Starting with information that TBXAS1 disorders ⬆️ bone density 💊Could it be a target to treat bone fragility disorders such as OI? thromboxane synthase (TXAS) inhibitors in 🐭 studies ⬆️ bone formation ⬆️ biomechanical profiles Patients next?

Make sure to join this year’s Mendel Lecture by @kkariko at 13:30 CEST in the Gold Room followed by the ESHG Awardee Daniel MacArthur #eshg2025