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Reposted by Aleena M Stolworthy

Ensembl @ensembl.org · Sep 4

We teamed up with @diplomics.bsky.social‬ to deliver Ensembl South African Workshop Series 🇿🇦

We were at Pretoria, Limpopo, Durban and Cape Town!

Always inspiring to see how researchers are applying Ensembl in powerful ways
#genomics #Bioinformatics #OpenAccess

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Aleena M Stolworthy @aleenamolbio.bsky.social · Aug 9

Saying goodbye to Johannesburg for now and on towards Limpopo for more exciting @ensembl.bsky.social workshops 💻✈️
#bioinformatics #travel

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Aleena M Stolworthy @aleenamolbio.bsky.social · Jul 1

Feedback from DNA extraction PE activity in Colombia 🇨🇴: we asked high school students to write down their feelings and someone has put down “frustacion and decepcion”
Welcome to the world of lab-based research my friend where honesty (and failed experiments) starts young. 😂🧪🍓
#SciComm #Genetics

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ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 27

Thanks for reporting about the parallel sessions and highlights, @nickywhiffin.bsky.social @jamesfasham.bsky.social @pilarcacheiro.bsky.social @zornitza.bsky.social @agnescaruso.bsky.social and all #eshg2025
I got incredible feedback and will work hard to implement it by next year.

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James Fasham @jamesfasham.bsky.social · May 27

Edu Calpena #ESHG2025
@educalpena.bsky.social

Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus

"Ectopic expression of SIX3 in the SIX2 territory"

2p21 deletions with TAD disruption shown below

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James Fasham @jamesfasham.bsky.social · May 27

Congratulations Jingzhan ☺️

European Society of Human Genetics @eshg.bsky.social · May 27

#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)"

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Nicky Whiffin @nickywhiffin.bsky.social · May 27

Huge bonus of a hybrid conference - even if you have to fly home, you can log on to listen to two amazing and inspiring award lectures!

Including from my absolutely incredible mentor, collaborator, and friend @dgmacarthur.bsky.social 🤩👏

Importantly, accompanied by a proper cup of tea 😊

#eshg2025

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European Society of Human Genetics @eshg.bsky.social · May 27

#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)

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European Society of Human Genetics @eshg.bsky.social · May 27

#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"

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European Society of Human Genetics @eshg.bsky.social · May 27

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"

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European Society of Human Genetics @eshg.bsky.social · May 27

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

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European Society of Human Genetics @eshg.bsky.social · May 27

#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"

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European Society of Human Genetics @eshg.bsky.social · May 27

#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"

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European Society of Human Genetics @eshg.bsky.social · May 27

#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"

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Reposted by Aleena M Stolworthy

European Society of Human Genetics @eshg.bsky.social · May 27

#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)"

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Reposted by Aleena M Stolworthy

European Society of Human Genetics @eshg.bsky.social · May 27

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"

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European Society of Human Genetics @eshg.bsky.social · May 27

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

Winner: Emre Akbas, Eskisehir, Turkey

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European Society of Human Genetics @eshg.bsky.social · May 27

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

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European Society of Human Genetics @eshg.bsky.social · May 27

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)

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European Society of Human Genetics @eshg.bsky.social · May 27

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

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European Society of Human Genetics @eshg.bsky.social · May 27

Tune in at 15:25 CEST to meet this year’s winners of the Gert Jan Van Ommen Citation Awards presented by EJHG Journal, the Early Career Award Winners, the Dian Donnai & Jill Clayton-Smith Award Winners and the #eshg DNA Day Winners 2025!

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European Society of Human Genetics @eshg.bsky.social · May 27

ESHG Observership scheme awardees 2025
• 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

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Juliana Miranda Cerqueira @julianamiranda.bsky.social · May 27

Wrapping up the last concurrent session at #eshg2025! At the Gold Plenary “C32 Beyond common variants – pop sequencing and CNVs” delivered outstanding methods. From haplotype-informed analyses, meta-analyses to genetic diversty—pushing the frontier in decoding rare variants and complex traits. #gwas

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Pilar Cacheiro @pilarcacheiro.bsky.social · May 27

Aisha Hanaya Alsuwadi on the UAE Genome Program. Love this slide. From population genetics to personalised medicine.

#ESHG2025

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Reposted by Aleena M Stolworthy

Pilar Cacheiro @pilarcacheiro.bsky.social · May 27

Hye In Kim. " Human knockouts" in the Genes and Health cohort.

#ESHG2025

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