James Fasham
@jamesfasham.bsky.social
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25
October 24, 2025 at 1:30 PM
Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25
Prof. Caroline Wright @UniofExeter explaining the challenges of quantifying penetrance of rare diseases in population cohorts at @ICoNSeqOrg #ICoNSs25
Beware ⚠️
- accidental inclusion of benign variants
- relying on limited phenotype data / codes which may be erroneous
Beware ⚠️
- accidental inclusion of benign variants
- relying on limited phenotype data / codes which may be erroneous
October 24, 2025 at 11:03 AM
Prof. Caroline Wright @UniofExeter explaining the challenges of quantifying penetrance of rare diseases in population cohorts at @ICoNSeqOrg #ICoNSs25
Beware ⚠️
- accidental inclusion of benign variants
- relying on limited phenotype data / codes which may be erroneous
Beware ⚠️
- accidental inclusion of benign variants
- relying on limited phenotype data / codes which may be erroneous
Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25.
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
October 24, 2025 at 10:46 AM
Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25.
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
At #ICoNS25 meeting in London the last 2 days (sorry for absence of livetweets!)
Exploring the future of genomics as part of routine #NewbornScreening worldwide
Exploring the future of genomics as part of routine #NewbornScreening worldwide
October 24, 2025 at 10:34 AM
At #ICoNS25 meeting in London the last 2 days (sorry for absence of livetweets!)
Exploring the future of genomics as part of routine #NewbornScreening worldwide
Exploring the future of genomics as part of routine #NewbornScreening worldwide
Reposted by James Fasham
I loved it once again! Thanks for everyone making #eshg2025 happen!
#eshg2025 —> #eshg2026
Any suggestions for improvement ; ideas for topics and speakers?
Await the formal survey by @eshg.bsky.social but you can also let me know personally:
docs.google.com/document/d/1...
#eshg2025 —> #eshg2026
Any suggestions for improvement ; ideas for topics and speakers?
Await the formal survey by @eshg.bsky.social but you can also let me know personally:
docs.google.com/document/d/1...
ESHG suggestions from participants
ESHG Feedback & suggestions Please add bullet points with suggestions for future ESHG conferences; think new/trending topics; speakers (amazing science and amazing presenters); formats; other options...
docs.google.com
May 29, 2025 at 12:13 PM
I loved it once again! Thanks for everyone making #eshg2025 happen!
#eshg2025 —> #eshg2026
Any suggestions for improvement ; ideas for topics and speakers?
Await the formal survey by @eshg.bsky.social but you can also let me know personally:
docs.google.com/document/d/1...
#eshg2025 —> #eshg2026
Any suggestions for improvement ; ideas for topics and speakers?
Await the formal survey by @eshg.bsky.social but you can also let me know personally:
docs.google.com/document/d/1...
May 29, 2025 at 11:09 AM
(just testing the new 🤖 @diseasegenes.bsky.social bot)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
May 29, 2025 at 10:46 AM
(just testing the new 🤖 @diseasegenes.bsky.social bot)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
Reposted by James Fasham
Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
May 27, 2025 at 8:46 PM
Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
Reposted by James Fasham
Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social
May 26, 2025 at 8:37 AM
Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social
Look forward to seeing you in Exeter Lein ☺️
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 2:23 PM
Look forward to seeing you in Exeter Lein ☺️
Reposted by James Fasham
#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!
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 ☺️
Mathilde DOYARD #ESHG2025
Starting with information that TBXAS1 disorders ⬆️ bone density
💊Could it be a target to treat bone fragility disorders such as OI?
thromboxane synthase (TXAS) inhibitors
in 🐭 studies
⬆️ bone formation
⬆️ biomechanical profiles
Patients next?
Starting with information that TBXAS1 disorders ⬆️ bone density
💊Could it be a target to treat bone fragility disorders such as OI?
thromboxane synthase (TXAS) inhibitors
in 🐭 studies
⬆️ bone formation
⬆️ biomechanical profiles
Patients next?
May 27, 2025 at 10:27 AM
Mathilde DOYARD #ESHG2025
Starting with information that TBXAS1 disorders ⬆️ bone density
💊Could it be a target to treat bone fragility disorders such as OI?
thromboxane synthase (TXAS) inhibitors
in 🐭 studies
⬆️ bone formation
⬆️ biomechanical profiles
Patients next?
Starting with information that TBXAS1 disorders ⬆️ bone density
💊Could it be a target to treat bone fragility disorders such as OI?
thromboxane synthase (TXAS) inhibitors
in 🐭 studies
⬆️ bone formation
⬆️ biomechanical profiles
Patients next?
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
Hristiana Lyubenova #ESHG2025
The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome
A deep dive into uncovering the mechanism of this well-recognised condition
The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome
A deep dive into uncovering the mechanism of this well-recognised condition
May 27, 2025 at 9:48 AM
Hristiana Lyubenova #ESHG2025
The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome
A deep dive into uncovering the mechanism of this well-recognised condition
The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome
A deep dive into uncovering the mechanism of this well-recognised condition
Reposted by James Fasham
Current speaker Harry Wright in plenary session has been working in human genetics for 14 months. Another star in the making from the Exeter team #ESHG2025. Pointing out non coding aggregate signal in FGF18 for height, the gene has no coding signal (very constrained gene).
May 27, 2025 at 9:26 AM
Current speaker Harry Wright in plenary session has been working in human genetics for 14 months. Another star in the making from the Exeter team #ESHG2025. Pointing out non coding aggregate signal in FGF18 for height, the gene has no coding signal (very constrained gene).
Reposted by James Fasham
Already-risen Exeter star Gareth Hawkes @drghawkes.bsky.social following up with the latest master class in how to use WGS data, >1 billion variant based GWAS. They bypassed the WES era as didn't want to leave out 99% of the genome :-) #ESHG2025
May 27, 2025 at 9:38 AM
Already-risen Exeter star Gareth Hawkes @drghawkes.bsky.social following up with the latest master class in how to use WGS data, >1 billion variant based GWAS. They bypassed the WES era as didn't want to leave out 99% of the genome :-) #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)
🩻 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)
May 27, 2025 at 9:33 AM
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)
🩻 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)
Reposted by James Fasham
May 27, 2025 at 5:54 AM
Vicente Yepez #ESHG2025
Rare Disease multi-OMICs Solvathons - a disease solving hackathon
- make sure you have consent to share
Integrated multi-omics in parallel is best
DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)
Rare Disease multi-OMICs Solvathons - a disease solving hackathon
- make sure you have consent to share
Integrated multi-omics in parallel is best
DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)
May 27, 2025 at 8:05 AM
Vicente Yepez #ESHG2025
Rare Disease multi-OMICs Solvathons - a disease solving hackathon
- make sure you have consent to share
Integrated multi-omics in parallel is best
DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)
Rare Disease multi-OMICs Solvathons - a disease solving hackathon
- make sure you have consent to share
Integrated multi-omics in parallel is best
DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)