Aleena M Stolworthy
@aleenamolbio.bsky.social
🔬Ensembl training
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
Reposted by Aleena M Stolworthy
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
We were at Pretoria, Limpopo, Durban and Cape Town!
Always inspiring to see how researchers are applying Ensembl in powerful ways
#genomics #Bioinformatics #OpenAccess
September 4, 2025 at 12:03 PM
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
We were at Pretoria, Limpopo, Durban and Cape Town!
Always inspiring to see how researchers are applying Ensembl in powerful ways
#genomics #Bioinformatics #OpenAccess
Saying goodbye to Johannesburg for now and on towards Limpopo for more exciting @ensembl.bsky.social workshops 💻✈️
#bioinformatics #travel
#bioinformatics #travel
August 9, 2025 at 6:17 AM
Saying goodbye to Johannesburg for now and on towards Limpopo for more exciting @ensembl.bsky.social workshops 💻✈️
#bioinformatics #travel
#bioinformatics #travel
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
Welcome to the world of lab-based research my friend where honesty (and failed experiments) starts young. 😂🧪🍓
#SciComm #Genetics
July 1, 2025 at 4:59 PM
Reposted by Aleena M Stolworthy
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.
I got incredible feedback and will work hard to implement it by next year.
May 27, 2025 at 3:43 PM
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.
I got incredible feedback and will work hard to implement it by next year.
Reposted by Aleena M Stolworthy
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
@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
May 27, 2025 at 10:10 AM
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
@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
Reposted by Aleena M Stolworthy
Congratulations Jingzhan ☺️
#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 1:23 PM
Congratulations Jingzhan ☺️
Reposted by Aleena M Stolworthy
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
Including from my absolutely incredible mentor, collaborator, and friend @dgmacarthur.bsky.social 🤩👏
Importantly, accompanied by a proper cup of tea 😊
#eshg2025
May 27, 2025 at 1:02 PM
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
Including from my absolutely incredible mentor, collaborator, and friend @dgmacarthur.bsky.social 🤩👏
Importantly, accompanied by a proper cup of tea 😊
#eshg2025
Reposted by Aleena M Stolworthy
#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)
Reposted by Aleena M Stolworthy
#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"
Reposted by Aleena M Stolworthy
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"
Reposted by Aleena M Stolworthy
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
Reposted by Aleena M Stolworthy
#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"
Reposted by Aleena M Stolworthy
#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"
Reposted by Aleena M Stolworthy
#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"
Reposted by Aleena M Stolworthy
#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)"
Reposted by Aleena M Stolworthy
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"
Reposted by Aleena M Stolworthy
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
Reposted by Aleena M Stolworthy
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)
Reposted by Aleena M Stolworthy
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
Reposted by Aleena M Stolworthy
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!
May 27, 2025 at 1:15 PM
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!
Reposted by Aleena M Stolworthy
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
Reposted by Aleena M Stolworthy
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
May 27, 2025 at 10:14 AM
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
Reposted by Aleena M Stolworthy
Reposted by Aleena M Stolworthy
May 27, 2025 at 10:21 AM