James Fasham
@jamesfasham.bsky.social
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
Very grateful to colleagues including @rdexeter.bsky.social, @nihrexeterbrc.bsky.social, @stefanbarakat.bsky.social, the NHS Rare & Inherited Disease Genomic Network of Excellence, and to the patients and families who made this work possible. 🙏
Paper: pubmed.ncbi.nlm.nih.gov/41349538/
Paper: pubmed.ncbi.nlm.nih.gov/41349538/
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia - PubMed
Complex neurodegenerative conditions have occasionally been associated with copy-number gains. Using microarray and genome sequencing on DNA samples from eleven individuals from nine unrelated families, we show that copy-number gains at 16p13.3 cause a severe, recognizable disorder characterized by …
pubmed.ncbi.nlm.nih.gov
December 8, 2025 at 8:42 AM
Very grateful to colleagues including @rdexeter.bsky.social, @nihrexeterbrc.bsky.social, @stefanbarakat.bsky.social, the NHS Rare & Inherited Disease Genomic Network of Excellence, and to the patients and families who made this work possible. 🙏
Paper: pubmed.ncbi.nlm.nih.gov/41349538/
Paper: pubmed.ncbi.nlm.nih.gov/41349538/
Long-read sequencing revealed inverted duplication–triplication structure not reliably detectable using standard clinical genomic assays 🔬
RNA-seq demonstrated significant ATP6VOC upregulation, implicating disrupted vacuolar H⁺-ATPase stoichiometry
RNA-seq demonstrated significant ATP6VOC upregulation, implicating disrupted vacuolar H⁺-ATPase stoichiometry
December 8, 2025 at 8:42 AM
Long-read sequencing revealed inverted duplication–triplication structure not reliably detectable using standard clinical genomic assays 🔬
RNA-seq demonstrated significant ATP6VOC upregulation, implicating disrupted vacuolar H⁺-ATPase stoichiometry
RNA-seq demonstrated significant ATP6VOC upregulation, implicating disrupted vacuolar H⁺-ATPase stoichiometry
Follow up discussion:
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
October 24, 2025 at 11:15 AM
Follow up discussion:
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
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 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
If we ever needed a change we could do worse than EAHG : European Assembly of Human Geneticists?
May 27, 2025 at 9:43 AM
If we ever needed a change we could do worse than EAHG : European Assembly of Human Geneticists?