Juliana Miranda Cerqueira
@julianamiranda.bsky.social
Doctoral researcher @CeliRes_TAU | @TampereUniMet | Former member & Consultant @eshgyoung.bsky.social
A heartfelt thank you to @gosiatrynka.bsky.social & her incredible team at @sangerinstitute.bsky.social, especially to the @eshg.bsky.social EduComm for making this truly career-shaping experience possible. I hope my journey inspires others to apply! 🙌🧬 @eshgyoung.bsky.social
Remember to apply to the ESHG International Observership Programme by 30 November Info eshg.org/education/es... Meet one of last year’s awardees: Juliana Miranda from Tampere, who spent a month at the Wellcome Sanger Institute under Dr. Gosia Trynka, PhD @eshg.bsky.social @julianamiranda.bsky.social
November 26, 2025 at 1:49 PM
A heartfelt thank you to @gosiatrynka.bsky.social & her incredible team at @sangerinstitute.bsky.social, especially to the @eshg.bsky.social EduComm for making this truly career-shaping experience possible. I hope my journey inspires others to apply! 🙌🧬 @eshgyoung.bsky.social
Reposted by Juliana Miranda Cerqueira
Welcome to the ESHG-Young team, Maria Francesca, Nelson, Mathys and Ewelina! Together, they represent the diversity, collaboration, and innovation driving the future of human genetics!
Get to know our four new members in these images:
@eshg.bsky.social
@ejhg-journal.bsky.social
#Genetics
Get to know our four new members in these images:
@eshg.bsky.social
@ejhg-journal.bsky.social
#Genetics
November 5, 2025 at 1:26 PM
Welcome to the ESHG-Young team, Maria Francesca, Nelson, Mathys and Ewelina! Together, they represent the diversity, collaboration, and innovation driving the future of human genetics!
Get to know our four new members in these images:
@eshg.bsky.social
@ejhg-journal.bsky.social
#Genetics
Get to know our four new members in these images:
@eshg.bsky.social
@ejhg-journal.bsky.social
#Genetics
Reposted by Juliana Miranda Cerqueira
Last call for #GutMetagenomics26 applications🧬
Apply for our free Human Gut Microbiome Metagenomics training in Africa, by 3 November ⏰
🗓️12-17 April 2026 + post-course mentoring and #SciComms skills development for #PublicHealth.
📍 @kemriwellcome.bsky.social
Find out more 👉🏾 bit.ly/4n00owP
Apply for our free Human Gut Microbiome Metagenomics training in Africa, by 3 November ⏰
🗓️12-17 April 2026 + post-course mentoring and #SciComms skills development for #PublicHealth.
📍 @kemriwellcome.bsky.social
Find out more 👉🏾 bit.ly/4n00owP
October 30, 2025 at 11:00 AM
Last call for #GutMetagenomics26 applications🧬
Apply for our free Human Gut Microbiome Metagenomics training in Africa, by 3 November ⏰
🗓️12-17 April 2026 + post-course mentoring and #SciComms skills development for #PublicHealth.
📍 @kemriwellcome.bsky.social
Find out more 👉🏾 bit.ly/4n00owP
Apply for our free Human Gut Microbiome Metagenomics training in Africa, by 3 November ⏰
🗓️12-17 April 2026 + post-course mentoring and #SciComms skills development for #PublicHealth.
📍 @kemriwellcome.bsky.social
Find out more 👉🏾 bit.ly/4n00owP
Reposted by Juliana Miranda Cerqueira
Want to rewatch sessions from #ESHG2025 Milan?
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105
📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel
@eshg.bsky.social
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105
📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel
@eshg.bsky.social
October 24, 2025 at 11:13 AM
Want to rewatch sessions from #ESHG2025 Milan?
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105
📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel
@eshg.bsky.social
You can access all conference content until Nov 30, 23:59 CET from any device.
👉 cattendee.abstractsonline.com/meeting/21105
📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel
@eshg.bsky.social
Reposted by Juliana Miranda Cerqueira
📢 Join the @jacksonlab.bsky.social, the African Society of Human Genetics and @eshgyoung.bsky.social for our 2025 webinar series
🧬 Cell Modeling and Engineering for Rare Diseases 🧫
📅 Nov 5, 6, 12, 13
🕒 8–10 AM EST| 1–3 PM UTC| 3–5 PM CAT/EET
Register here: tinyurl.com/z9kkhw55
@eshg.bsky.social
🧬 Cell Modeling and Engineering for Rare Diseases 🧫
📅 Nov 5, 6, 12, 13
🕒 8–10 AM EST| 1–3 PM UTC| 3–5 PM CAT/EET
Register here: tinyurl.com/z9kkhw55
@eshg.bsky.social
October 16, 2025 at 2:48 PM
📢 Join the @jacksonlab.bsky.social, the African Society of Human Genetics and @eshgyoung.bsky.social for our 2025 webinar series
🧬 Cell Modeling and Engineering for Rare Diseases 🧫
📅 Nov 5, 6, 12, 13
🕒 8–10 AM EST| 1–3 PM UTC| 3–5 PM CAT/EET
Register here: tinyurl.com/z9kkhw55
@eshg.bsky.social
🧬 Cell Modeling and Engineering for Rare Diseases 🧫
📅 Nov 5, 6, 12, 13
🕒 8–10 AM EST| 1–3 PM UTC| 3–5 PM CAT/EET
Register here: tinyurl.com/z9kkhw55
@eshg.bsky.social
Reposted by Juliana Miranda Cerqueira
🌟 Applications for the Mentorship & Observership Programmes by @ESHG
🌟 Gain hands-on experience, travel support & professional growth!
✈️ Apply by 30 Nov 2025. Notifications of acceptance by 15 Jan 2026.
⚠️ Check eligibility criteria and requirements.
More info in bio. #ESHG
🌟 Gain hands-on experience, travel support & professional growth!
✈️ Apply by 30 Nov 2025. Notifications of acceptance by 15 Jan 2026.
⚠️ Check eligibility criteria and requirements.
More info in bio. #ESHG
October 10, 2025 at 10:39 AM
🌟 Applications for the Mentorship & Observership Programmes by @ESHG
🌟 Gain hands-on experience, travel support & professional growth!
✈️ Apply by 30 Nov 2025. Notifications of acceptance by 15 Jan 2026.
⚠️ Check eligibility criteria and requirements.
More info in bio. #ESHG
🌟 Gain hands-on experience, travel support & professional growth!
✈️ Apply by 30 Nov 2025. Notifications of acceptance by 15 Jan 2026.
⚠️ Check eligibility criteria and requirements.
More info in bio. #ESHG
📢 Thrilled to share the @Elsevier book 'The Emerging Genomic Landscape of Complex Immune-Mediated Traits' is out! 🧬 Honored to guest-edit & contribute a chapter. Big thanks to amazing collaborators across Europe & Brazil! #genomics #genetics #multiomics #celiacdisease #autoimmunity #bioinformatics
October 3, 2025 at 12:50 PM
📢 Thrilled to share the @Elsevier book 'The Emerging Genomic Landscape of Complex Immune-Mediated Traits' is out! 🧬 Honored to guest-edit & contribute a chapter. Big thanks to amazing collaborators across Europe & Brazil! #genomics #genetics #multiomics #celiacdisease #autoimmunity #bioinformatics
Reposted by Juliana Miranda Cerqueira
Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities.
See you all in Pavia for #EuroDysmorpho 2026!
@eshg.bsky.social @silk93.bsky.social
See you all in Pavia for #EuroDysmorpho 2026!
@eshg.bsky.social @silk93.bsky.social
September 20, 2025 at 1:23 PM
Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities.
See you all in Pavia for #EuroDysmorpho 2026!
@eshg.bsky.social @silk93.bsky.social
See you all in Pavia for #EuroDysmorpho 2026!
@eshg.bsky.social @silk93.bsky.social
Reposted by Juliana Miranda Cerqueira
We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course.
Read more:
Read more:
Farewell to Albert Schinzel, former President of ESHG
09/18/2025
www.eshg.org
September 18, 2025 at 2:30 PM
We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course.
Read more:
Read more:
Reposted by Juliana Miranda Cerqueira
@ejhg-journal.bsky.social is now actively sharing updates, publications, and announcements on Bluesky.
If you haven’t connected with them yet, we’d love to invite you to follow the account.
If you haven’t connected with them yet, we’d love to invite you to follow the account.
Male Robertsonian translocation carriers are significantly more likely to produce balanced embryos via PGT, shaping counselling for couples on their reproductive journey. 🧬
⬇️⬇️
www.nature.com/articles/s41...
⬇️⬇️
www.nature.com/articles/s41...
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing - European Journal of Human Genetics
European Journal of Human Genetics - Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing
www.nature.com
July 7, 2025 at 10:53 AM
@ejhg-journal.bsky.social is now actively sharing updates, publications, and announcements on Bluesky.
If you haven’t connected with them yet, we’d love to invite you to follow the account.
If you haven’t connected with them yet, we’d love to invite you to follow the account.
Reposted by Juliana Miranda Cerqueira
📢 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.
Reposted by Juliana Miranda Cerqueira
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!
Reposted by Juliana Miranda Cerqueira
🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes
🔗 Open-access review👇
www.nature.com/articles/s41...
🔗 Open-access review👇
www.nature.com/articles/s41...
Artificial intelligence in clinical genetics - European Journal of Human Genetics
European Journal of Human Genetics - Artificial intelligence in clinical genetics
www.nature.com
June 12, 2025 at 1:41 PM
🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes
🔗 Open-access review👇
www.nature.com/articles/s41...
🔗 Open-access review👇
www.nature.com/articles/s41...
Reposted by Juliana Miranda Cerqueira
The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg
ESHG: 2025 Press Releases
The news that the Greek government has entrusted newborn screening to private organisations raises many concerns. Newborn screening is a vital public health initiative, and significant efforts are…
www.eshg.org
June 12, 2025 at 1:58 PM
The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg
Reposted by Juliana Miranda Cerqueira
📢 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.
Reposted by Juliana Miranda Cerqueira
🧠 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
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
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour
Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.
www.nature.com
June 2, 2025 at 1:16 PM
🧠 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
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
We thank you @iamslambert.bsky.social for the incredible contribution to this course! A unique opportunity for attendees to gain insights into large-scale genomic databases like @pgscatalog.bsky.social. 🙌 #ESHG2025
Great fun sharing the @pgscatalog.bsky.social at the pre- #ESHG25 course on open-source genomics resources. Thanks to Juliana Cerqueira and Inga Prokopenko for the invite!
Looking forward to the rest of the conference!
Looking forward to the rest of the conference!
May 28, 2025 at 8:47 PM
We thank you @iamslambert.bsky.social for the incredible contribution to this course! A unique opportunity for attendees to gain insights into large-scale genomic databases like @pgscatalog.bsky.social. 🙌 #ESHG2025
Grateful to EduComm @eshg.bsky.social for this amazing opportunity. Huge thanks to @gosiatrynka.bsky.social for hosting me at @sangerinstitute.bsky.social and to my supervisor @KatriLindfors for her support. This observership has expanded my academic aspirations ahead for sure. #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 4:50 PM
Grateful to EduComm @eshg.bsky.social for this amazing opportunity. Huge thanks to @gosiatrynka.bsky.social for hosting me at @sangerinstitute.bsky.social and to my supervisor @KatriLindfors for her support. This observership has expanded my academic aspirations ahead for sure. #eshg2025
Reposted by Juliana Miranda Cerqueira
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 Juliana Miranda Cerqueira
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 Juliana Miranda Cerqueira
#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 Juliana Miranda Cerqueira
#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 Juliana Miranda Cerqueira
#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 Juliana Miranda Cerqueira
#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"