James Fasham
@jamesfasham
🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
ID: 3380705554
17-07-2015 18:05:25
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🆕 Updated prevalence of NF2-related schwannomatosis ▶️ Much higher rate of de novo NF2 than previously reported ▶️ Study strength: Data from a centrally held NF2 UK database, where molecular and clinical data are updated regularly ▶️ bit.ly/4bxi0d1 👥 George Burghel - جورج برغل
▶️New evidence for Tatton-Brown-Rahman syndrome's clinical and molecular spectrum ▶️Second largest cohort of individuals with TBRS ▶️New phenotypes: Localised congenital hypertrichosis & early onset puberty in females 👀 bit.ly/3WerRQg Nico Chatron
UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames Nicky Whiffin Xiaolei Zhang 张小蕾 #noncoding
The structural variant genome track has been updated to Genome Aggregation Database v4.1 – 1,199,117 high quality structural variants identified in 63,046 genomes from unrelated individuals
Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd
PNPLA8 is novel AR #Morbidgene for neurodevelopmental / neurodegenerative disorders, some with epileptic–dyskinetic encephalopathy Thanks Reza Maroofian for highlighting
I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: rarediseasegenomics.org/blog/rnu4-2-th… Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!) If you have any RNU4-2 families, please do share!
So proud that our Windows of Hope project has been shortlisted for STEM project of the year #THEAwards WoH works with Amish communities in North America. Their genetic discovery programme has transformed lives in the community and worldwide Exeter Rare Disease wohproject.com
Great work Exeter Rare Disease!
📢📢📢 Opportunity for young geneticists! European Society of Human Genetics (ESHG) opened call for applications for ESHG Mentorship 🧑🎓and Observership 👀Programmes! Apply until 30th November and spend some time in one of the top clinics and laboratories. eshg_young 🧬
UK Clinical Genetics BSGM UK Cancer Genetics Group The DECIPHER Project Helen Firth James Fasham Kaitlin Samocha AGNC Nicky Whiffin Diana Baralle Why attend #ClinicalGen25? 🗣️ We'll be joined by leading speakers including: Caroline Wright, Clare Turnbull- Prof/NHS Dr, James Fasham, and James Ware 🖥️ Master online tools (The DECIPHER Project) 🧬 Workshops on cancer and cardiac genetics using DECIPHER 🗓️ Join us 3-5 February 2025