First: we are proud to present RBPamp, a biophysical model of protein-RNA interactions and associated algorithm to query affinity of proteins for different RNA sequences from RBNS data biorxiv.org/content/10.110…

"I am truly excited to lead our brilliant team of researchers and collaborators in pushing the boundaries of science and unlocking vital understanding." New UK DRI at Cambridge Director Prof Mina Ryten in Cambridge Independent ⬇️ buff.ly/3HQJ9ei

Non-coding mutations can lead to rare disease too! PacBio detected de novo mutation of lncRNA CHASERR leading to rare syndromic neurodevelopmental disorder medrxiv.org/content/10.110…

Super proud of my team for seeing the #SQANTI3 paper published today in Nature Methods. Thanks to all who contributed to this milestone of the Conesa Lab Francisco Pardo-Palacios @aarzalluz_ Tianyuan Liu Liudmyla Kondratova🇺🇦 Liz Tseng Lauren M McIntyre LongTREC CSIC nature.com/articles/s4159…

SQANTI3 is the latest version of the SQANTI tool, offering a flexible approach for quality control, curation, and annotation of long-read RNA sequencing derived transcriptomes. AnaConesa Conesa Lab nature.com/articles/s4159…

Physicist Peter Higgs has passed away at the age of 94. The Higgs particle, often called the God particle, is named after him. Higgs was awarded the 2013 physics prize for the theory of how particles acquire mass. Watch our interview with him: youtu.be/0WduRCAlIig

So happy to see our RAB32 article out today on #WorldParkinsonsDay. We found RAB32 Ser71Arg in multiple ethnic groups, with the same haplotype. This makes me think it might not be that rare, relatively. This finding also implicate #LRRK2 kinase across multiple Mendelian forms.

British toddler has hearing restored in world first gene therapy trial - The Guardian apple.news/Ajx4xYHfQQ52tA…

A new BBC documentary explores the discoveries made by researchers at UCL and UCLH that have given hope for #AlzheimersDisease, and the family that helped make it happen. Watch #jenningsvsalzheimers on BBC Two 9pm 13 May 2024. Read more buff.ly/3WGIvcd @brain_appeal

This is a very exciting opportunity and will involve long-read RNA and DNA sequencing in neurodegeneration.

Finally in print! I really think there is more to this "pseudo"gene. This has been such a nice collaborative effort and am really grateful to all that has been part of this story Aligning Science Across Parkinson’s TeamWood ASAP CRN PD_Progression ASAPTransposons #GBA1 #GBAP1 #PD science.org/doi/10.1126/sc…

Great first day at #icar2024. Moving accounts on the impact of #ataxia on those affected, advances in disease modelling, promise of therapeutics on the horizon & keynote from Walter J. Koroshetz on many exciting initiatives! Looking forward to the next few days!

Congratulations, Louise Huuki-Myers!