Pinned Tweet
3 pieces of big news:
✅I have completed my CCT in Clinical Genetics
👨⚕️I have accepted a consultant position in Exeter
🧑🎓@ExeterBRC have offered me a fellowship to continue my research at @UniofExeter
V grateful to everyone who has helped me on this (15 year!) journey.
✅I have completed my CCT in Clinical Genetics
👨⚕️I have accepted a consultant position in Exeter
🧑🎓@ExeterBRC have offered me a fellowship to continue my research at @UniofExeter
V grateful to everyone who has helped me on this (15 year!) journey.
27
5
117
4,994
James Fasham retweeted
ESHG 2026 brought together 6,000+ participants with more than 352 talks and 2,600+ posters.
📷 Photos from ESHG 2026: flic.kr/s/aHBqjCWyvG
Save the date for ESHG 2027 in Rotterdam!
Book your hotel & benefit from special rates: 2027.eshg.org/myconference/a…
#eshg2026 #eshg2027
📷 Photos from ESHG 2026: flic.kr/s/aHBqjCWyvG
Save the date for ESHG 2027 in Rotterdam!
Book your hotel & benefit from special rates: 2027.eshg.org/myconference/a…
#eshg2026 #eshg2027
0
4
8
406
James Fasham retweeted
🧬 3rd ESHG Training Course on Pharmacogenomics
📅 11–13 November 2026
📍 Manchester, UK
🎓 CPD accredited from the Royal College of Physicians
👉 Register now: mrcc.org.uk/events/eshg-ph…
#ESHG #Pharmacogenomics #Pharmacogenetics #Genetics #Genomes
📅 11–13 November 2026
📍 Manchester, UK
🎓 CPD accredited from the Royal College of Physicians
👉 Register now: mrcc.org.uk/events/eshg-ph…
#ESHG #Pharmacogenomics #Pharmacogenetics #Genetics #Genomes
0
1
7
472
DECIPHER continues to be actively developed Your feedback will help the team understand users’ experiences and identify possible improvements. Ive just done it, it takes less than 5 mins!
The annual DECIPHER user survey is now available ! Please, help us to improve DECIPHER by taking 5 minutes to answer. docs.google.com/forms/d/e/1FAI…
This is a new survey so don’t hesitate to answer it even if you had completed it last year.
0
2
6
2,085
James Fasham retweeted
The annual DECIPHER user survey is now available ! Please, help us to improve DECIPHER by taking 5 minutes to answer. docs.google.com/forms/d/e/1FAI…
This is a new survey so don’t hesitate to answer it even if you had completed it last year.
This is a new survey so don’t hesitate to answer it even if you had completed it last year.
0
3
2
858
James Fasham retweeted
How much diagnostic yield is lost when we focus on a single transcript?
Our new preprint systematically evaluates MANE Plus Clinical transcripts using variants from #ClinVar and @GenomicsEngland, highlighting implications for genomic diagnostics. researchsquare.com/article/rs-968…
#Genomics
Our new preprint systematically evaluates MANE Plus Clinical transcripts using variants from #ClinVar and @GenomicsEngland, highlighting implications for genomic diagnostics. researchsquare.com/article/rs-968…
#Genomics
2
4
17
1,084
James Fasham retweeted
Caroline Wright (Exeter) sharing fundamental knowledge
What does the "average" human genome look like?"
>900k 🧬 #UKB / #AllofUs
/ Genome:
1️⃣ ~4.4–5.5 million variants
2️⃣ 2–3 ClinVar P/LP (mostly AR)
3️⃣ ~62–70 de novo variants
4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
What does the "average" human genome look like?"
>900k 🧬 #UKB / #AllofUs
/ Genome:
1️⃣ ~4.4–5.5 million variants
2️⃣ 2–3 ClinVar P/LP (mostly AR)
3️⃣ ~62–70 de novo variants
4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
2
19
34
2,332
James Fasham retweeted
@JamesFasham @ejhg_journal @eshgsociety Proteomic (#OLINK) data available for ~10% of #UKBB participants very useful in confirming variant impact & exclusion of mosaic start-loss
0
1
3
138
James Fasham retweeted
@JamesFasham @ejhg_journal @eshgsociety Combining genomes with the previous exomes also helped increase power to exclude #mosaicism
1
1
3
95
James Fasham retweeted
@JamesFasham @ejhg_journal @eshgsociety Our study on OI highlights that caution should be applied when testing COL1A1/2 in gNBS nature.com/articles/s4143…
2
1
4
129
James Fasham retweeted
Missed a presentation at #eshg2026? No problem. All talks will be available on-demand until 30 November 2026, so you can catch up whenever it suits you.
You can still register for online participation and access the conference content: 2026.eshg.org/registration/
#genetics #genomes
You can still register for online participation and access the conference content: 2026.eshg.org/registration/
#genetics #genomes
0
2
4
163
James Fasham retweeted
🏆 Congratulations to Tuuli Lappalainen, ESHG Award Lecturer 2026!
In her Award Lecture, Professor Lappalainen will discuss next steps in interpreting these effects and the tools that will help researchers uncover the molecular mechanisms underlying genetic variation. #eshg2026
In her Award Lecture, Professor Lappalainen will discuss next steps in interpreting these effects and the tools that will help researchers uncover the molecular mechanisms underlying genetic variation. #eshg2026
0
1
9
239
Danny Cohn (Amsterdam UMC)
💊 Permanent prekallikrein silencing using in vivo CRISPR-Cas9 for hereditary angioedema
Phase 3 trial: 87% ⬇️ in attacks vs placebo
62% attack & therapy-free over 6 months.
📄 Hot off the press in time for #ESHG2026! nejm.org/doi/full/10.10…
💊 Permanent prekallikrein silencing using in vivo CRISPR-Cas9 for hereditary angioedema
Phase 3 trial: 87% ⬇️ in attacks vs placebo
62% attack & therapy-free over 6 months.
📄 Hot off the press in time for #ESHG2026! nejm.org/doi/full/10.10…
0
2
12
446
Rebecca Ahrens-Nicklas (CHOP)
💊 First-in-human personalised base editing for CPS1 deficiency
Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth.
pubmed.ncbi.nlm.nih.gov/40373211
#ESHG2026
💊 First-in-human personalised base editing for CPS1 deficiency
Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth.
pubmed.ncbi.nlm.nih.gov/40373211
#ESHG2026
1
3
9
424
James Fasham retweeted
@Unique_charity were so delighted to have the opportunity to share this exciting collaboration with the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust and The University of Sheffield, aimed at increasing the number of Unique guides.
🖼️ P25.064.D They're here!
New approach to creating high-quality patient information at scale.
Sheffield & @RareChromo working with students, clinicians, families & AI
Develop expert-reviewed guides for rare genetic conditions.
#ESHG2026
📖 rarechromo.org/disorder-guide…
0
2
2
305
👀 16p Triplication Ataxia
pubmed.ncbi.nlm.nih.gov/41349538/
pubmed.ncbi.nlm.nih.gov/41349538/
The CNV on chr16 could explain parts of the phenotype with DD but not the movement disorder. On genome Seq they got back a dup-trip-Duo constellation on Chr16. #eshg2026
That disorder was published by @JamesFasham et al. in @AJHGNews in Jan 2026 that explains this patients region of overlap included a single gene #ATP6V0C that is highly expressed in the cerebellum
cell.com/ajhg/fulltext/…
0
0
7
817
James Fasham retweeted
The CNV on chr16 could explain parts of the phenotype with DD but not the movement disorder. On genome Seq they got back a dup-trip-Duo constellation on Chr16. #eshg2026
That disorder was published by @JamesFasham et al. in @AJHGNews in Jan 2026 that explains this patients region of overlap included a single gene #ATP6V0C that is highly expressed in the cerebellum
cell.com/ajhg/fulltext/…
That disorder was published by @JamesFasham et al. in @AJHGNews in Jan 2026 that explains this patients region of overlap included a single gene #ATP6V0C that is highly expressed in the cerebellum
cell.com/ajhg/fulltext/…
1
3
8
1,072
James Fasham retweeted
📢 Join us now at the #eshg2026 Social Media Workshop! 📱✨
🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@JamesFasham
@aleenamolbio
@TWright_GenomeX
🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking.
@JamesFasham
@aleenamolbio
@TWright_GenomeX
0
1
7
139
Im a little late to the party (this is beauty of catch up 🔁 )
🧬 Fabrice Lejeune's explanation of nonsense-mediated mRNA decay has been my favourite educational talk of #ESHG2026 so far.
Understanding how genetic variants contribute, or don't contribute, to rare disease.
🧬 Fabrice Lejeune's explanation of nonsense-mediated mRNA decay has been my favourite educational talk of #ESHG2026 so far.
Understanding how genetic variants contribute, or don't contribute, to rare disease.
1
1
11
565
James Fasham retweeted
Let's celebrate the diversity at #eshg2026.
Show us your country's hidden gem! Reply with a photo of your favourite place, food, or anything you are proud of.
Look at the map below to see where participants this year are from.
Show us your country's hidden gem! Reply with a photo of your favourite place, food, or anything you are proud of.
Look at the map below to see where participants this year are from.
3
3
8
544