.University of Utah Health researchers have conclusively identified the genetic cause of a rare, progressive movement disorder.

A rare extra-long version of a gene causes nerve cells to become poisoned by toxic proteins in people with spinocerebellar ataxia 4 (SCA4).

usnews.com/news/health-ne…

Thank you to Craig Anderson Craig Anderson and the other mutationmeeting organisers for all of your hard work: Martin Martin Taylor, Michelle Michelle Trenkmann, Raheleh Raheleh Rahbari, and Veronica Veronica Kinsler

And of course to Alex Cagan for summarising the entire #MITS24 meeting 🧬⏲️🚀

Talk by Aaron Quinlan on the selective dynamics of interruptions at short tandem repeats #MITS24

A decent yesterday watching Liverpool v. Fulham at Craven Cottage.

Recently out on #bioRxiv : our updated approach to identify regional variability in missense mutation intolerance (“constraint”) in protein-coding genes using the gnomAD database (Genome Aggregation Database). 1/n

biorxiv.org/content/10.110…

Looking forward to seeing old friends and meeting new ones at #bog24 !

Talks and posters for @cshl Biology of Genomes are now available. See you all in a few weeks! #bog24 meetings.cshl.edu/abstracts.aspx….

Our new ms “Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain” is now at nature . rdcu.be/dEmgT! We report on human forebrain dynamic assembly during development…1/n

“Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain”, by 정창욱 Xiaoxu Yang Joseph G. Gleeson and collaborators, now out in nature

nature.com/articles/s4158…

Chandler Sutherland Chandler Sutherland is a JXTX/CSHL scholarship recipient from @pmb_berkeley who will present 'Roles of mutation and selection in the rapid evolution of plant innate immune receptors' at #bog24 jxtxfoundation.org/news/2024-02-2…

Omar Ahmed Omar Ahmed is a JXTX/CSHL scholarship recipient from Johns Hopkins University who will present 'Compressed pangenome indexing for rapid and robust taxonomic read classification' at #bog24 jxtxfoundation.org/news/2024-02-2…

Xiang Zhang is a JXTX/CSHL scholarship recipient from University of Minnesota who will present 'Mapping human gene function through a global genetic interaction network' at #bog24 jxtxfoundation.org/news/2024-02-2…

Prajna Hebbar is a JXTX/CSHL scholarship recipient from UC Santa Cruz who will present 'Improving Gene Annotations for Vertebrates and Human Pangemomes' at #bog24 jxtxfoundation.org/news/2024-02-2…

Yuyao Song (Yuyao Song) is a JXTX/CSHL scholarship recipient from EMBL-EBI who will present 'Constructing a cross-species knowledge graph of the cell type pattern of gene expression' at #bog24 jxtxfoundation.org/news/2024-02-2…

Jason Kunisaki Jason Kunisaki is a JXTX/CSHL scholarship recipient from the University of Utah who will present 'Exploring the role of de novo germline and somatic mutagenesis in male subfertility' at #bog24 jxtxfoundation.org/news/2024-02-2…

A well-deserved congratulations to Jason Kunisaki for being awarded an F31 fellowship from NICHD for his work on germ cell and somatic mutation in normally-fertile and subfertile men. I am so proud of this guy!

Clever heron using bread as fishing bait.

It’s time. Come help us find therapies for rare diseases