European Society of Human Genetics
@eshg.bsky.social
The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
Re-watch your favourite sessions and presentations by on the #eshg2025 virtual platform until November 30th, 2025:
cattendee.abstractsonline.com/meeting/21105
cattendee.abstractsonline.com/meeting/21105
November 3, 2025 at 11:28 AM
Re-watch your favourite sessions and presentations by on the #eshg2025 virtual platform until November 30th, 2025:
cattendee.abstractsonline.com/meeting/21105
cattendee.abstractsonline.com/meeting/21105
Inherited eye diseases cause early-onset vision loss, yet many cases remain unsolved due to missing heritability. On Oct 29, discover how multi-omics can boost diagnosis and reveal new therapeutic opportunities. www.eshg.org/webinarseries
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social
October 2, 2025 at 2:45 PM
Inherited eye diseases cause early-onset vision loss, yet many cases remain unsolved due to missing heritability. On Oct 29, discover how multi-omics can boost diagnosis and reveal new therapeutic opportunities. www.eshg.org/webinarseries
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social
📢 Episode 6 of the #ESHG Webinar Series: September 24 at 16:00 CEST
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.
September 4, 2025 at 1:31 PM
📢 Episode 6 of the #ESHG Webinar Series: September 24 at 16:00 CEST
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.
Genetic and genomic knowledge is key in today’s clinical practice.
Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening.
📚 Start learning now: buff.ly/GciCCGE
#Genetics #Genomics #MedicalEducation #Xpeer #ESHG
Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening.
📚 Start learning now: buff.ly/GciCCGE
#Genetics #Genomics #MedicalEducation #Xpeer #ESHG
July 22, 2025 at 1:05 PM
Genetic and genomic knowledge is key in today’s clinical practice.
Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening.
📚 Start learning now: buff.ly/GciCCGE
#Genetics #Genomics #MedicalEducation #Xpeer #ESHG
Explore 3 free, online courses on the ESHG Xpeer Channel - covering rare diseases, hereditary cancer, and prenatal screening.
📚 Start learning now: buff.ly/GciCCGE
#Genetics #Genomics #MedicalEducation #Xpeer #ESHG
📢 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.
🧬 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.
July 17, 2025 at 10:01 AM
📢 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.
🧬 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!
June 27, 2025 at 11:00 AM
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!
📢 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.
🧬 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.
June 16, 2025 at 3:42 PM
📢 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.
🧬 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.
#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!
May 27, 2025 at 2:04 PM
#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!
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 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)
May 27, 2025 at 1:21 PM
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 ELPAG Award laureate:
Sylvia Metcalfe (Melbourne, Australia)
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
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
May 27, 2025 at 1:21 PM
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
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
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
• 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
May 27, 2025 at 1:16 PM
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
• 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
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
• 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
May 27, 2025 at 1:14 PM
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
• 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
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"
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"
May 27, 2025 at 1:09 PM
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"
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)"
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)"
May 27, 2025 at 1:08 PM
#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)"
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"
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"
May 27, 2025 at 1:07 PM
#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"
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"
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"
May 27, 2025 at 1:07 PM
#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"
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"
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"
May 27, 2025 at 1:07 PM
#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"
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
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
May 27, 2025 at 1:06 PM
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
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"
Rebeka Luknárová, Munich, Germany
P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"
May 27, 2025 at 1:05 PM
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"
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"
Eva Vanbelleghem, Ghent, Belgium
P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"
May 27, 2025 at 1:05 PM
#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"
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)
- Ivana Džinovic (Munich, Germany)
- Noemi Castelluccio (Ghent, Belgium)
- Hilal Piril Saraçoglu (Istanbul, Turkey)
- Chiara Leso (Turin, Italy)
- Rhys Dore (London, United Kingdom)
May 27, 2025 at 1:05 PM
#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)
- 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
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
May 27, 2025 at 12:58 PM
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
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
🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2025 MatchMaking! Whether you're ready to take the next step in your career or seeking fresh talent, join us today at the #ESHG-Y booth 546 in Hall 4 at 12:00 hrs CEST. Let's connect and advance our careers in #genetics together!
May 26, 2025 at 9:45 AM
🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2025 MatchMaking! Whether you're ready to take the next step in your career or seeking fresh talent, join us today at the #ESHG-Y booth 546 in Hall 4 at 12:00 hrs CEST. Let's connect and advance our careers in #genetics together!
May 25, 2025 at 9:45 AM