🧠 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
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 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 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"
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
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
Since 2018, the European Society of Human Genetics has been presenting the ELPAG Award. It is presented 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)
#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 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 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 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# 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
#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)"
Hilary Martin on recessive diagnoses in DD. Exome-wide burden test of biallelic genotypes. Yield of new recessive genes is low with this study design.
#ESHG2025
Don't forget the presentations will still be available to view. #eshg2025
Chofit Chai #ESHG2025
Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome
Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS.
@ESHG2025
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)
This part (in purple) was relatively easy, but it is the other less recognizable syndromes is the part needing matchmaking to figure out the underlying causes of diseases.
#eshg2025
James Ware shows optimism about the clinical use and potential for therapeutic target discovery of genetic modifiers.
#ESHG2025
Solvathons are a large team efforts to solve rare disease cases. #eshg2025
James Ware. The majority of cardiomyopathy cases do not have an identified monogenic cause.
#ESHG2025
Kym Boycott #ESHG2025
What is matchmaking
One? Two? Zero? sided
Why do we do it (see the photo below ☺️)
👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange
❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better
#ESHG2025 day 3
Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis:
• 86% of known in scope diagnoses
• >250 new diagnoses from a cohort of 4,735 undiagnosed cases
• ~ 30% from new gene-disease relationships
Common list of genes for newborn screening? #eshg2025 are we going to agree?
Kathryn McGurk: Penetrance of secondary findings in inherited cardiomyopathies.
- Bluesky exchange on the slides
- Pathogenicity vs penetrance - Estimates of prevalence are uncertain
- Men have increased penetrance
-Cut-off for high/medium/low penetrance?
#ESHG2025
Phasing helps to resolve rare variants. It is not perfect but helps.
There is still need for clear family history.
#eshg2025
