ewout.bsky.social
Biomarkers and mRNA translation | Long-read sequencing | ASOs and gene therapy | SMA & MND research lab at UMC Utrecht | Previously University of Edinburgh | Also cycling, cats, father of 2
14 posts
651 followers
453 following
Regular Contributor
comment in response to
post
In getting too excited about the front cover, I forgot to link to the actual paper 🤦♂️ Here it is: Dynamic modulation of the motor neuron translatome during developmental synapse elimination | Science Signaling www.science.org/doi/10.1126/...
comment in response to
post
🔑 Why this matters: copy-specific variation in SMN2 could help explain:
Genotype-phenotype discordance
Variable treatment response
Disease mechanisms
TL;DR it's complicated, there's more to be done - and more to come!
#SpinalMuscularAtrophy #RareDisease @nanoporetech.com #bioinformatics
[3/3]
comment in response to
post
🧪 Using Nanopore sequencing + polyploid phasing, we analyzed individual SMN1/2 copies and their genomic environment, revealing copy-specific sequence and structural variants.
HapSMA is available via github.com/UMCUGenetics...
[2/3]
comment in response to
post
Thanks for flagging it up!
comment in response to
post
Fred approves. Or not. One never really with cats
comment in response to
post
Can you add me too? Thanks!
comment in response to
post
Our findings highlight that despite understanding genetic causes and having treatments available, optimal treatment of genetic diseases remains challenging.
Exciting to see all the insights the modest fibroblast could give us 🔬🧫
comment in response to
post
We found that in 57% of cases, cells showed a significantly better response to either nusinersen or risdiplam, despite similar mechanisms. This suggests treatment effectiveness varies between patients more than previously thought. 2/3
comment in response to
post
🙋♂️🙂