Steven paid a virtual visit to St Jude Children's Research Hospital. Fantastic to catch up with old friends and hear all about the exciting research going on at the Department of Structural Biology and Department of Cell and Molecular Biology. Steven presented on how combining machine learning with novel mass spec approaches may help us uncover new phase separation biology and targets for age-related disease. Thanks to everyone for the warm welcome and specifically to J. Paul Taylor for hosting me.
Together with Gijs Tazelaar and Mathias De Decker we got our paper out on the role of ATXN1 in ALS. Analyzing around 11,700 individuals let us to conclude that intermediate CAG expansions in ATXN1 are associated with an increased risk for ALS. Based on data from cell culture and Drosophila models we hypothesize that ATXN1 may be implicated in the age-related misregulation of TDP-43. Lots of follow-up work to do to figure this out in detail! These findings as well strengthen the evidence for a growing overlap between ALS and SCA, and the role for repeat expansions in ALS. This was a fantastic collaboration with the Project Mine Consortium. Read the paper here at Brain Communications.
Anushka Sanyal is unstoppable!!! Not only did she and her twin brother make the local news with both their wins in the Synopsys science fair, but she also won the 2nd prize of the BioGENEius Bay Area regional competition. Congrats Anushka!
Anushka Sanyal, my high school student, was named a Grand Prize Winner for the Synopsys science fair. She presented her fantastic work on the development of novel RNA-based strategies to counter TDP-43 aggregation in ALS. Congrats Anushka, well-deserved!
Amidst the COVID-19 crisis we decided to end experiments and close down the lab for at least 30 days to protect ourselves and put social distancing measures in place to slow down this outbreak. Hope all of you and your loved ones are safe. Take care of one another.
Lucas Porta from the Hayashi lab is visiting us for 2 months. Lucas obtained the competitive CAPES-PrInt grant from the Brazilian government to come and pursue experiments with Steven on the toxicity of venom peptides. Welcome Lucas!
Steven presented a poster at the yearly Packard ALS meeting. Was great to catch up with old and new friends! The meeting was followed by our second edition of the GMSH Retreat (Gitler-Myong-Shorter-Ha labs), this time at Johns Hopkins University. Fantastic group of scientists, great constructive feedback and good interactions. Super excited about new collaborative projects.
Anushka Sanyal ended her high school internship with Steven, and will present her work on the role of RNA in TDP-43 toxicity at several state and national science fairs. Good luck Anushka!
IDPSIG organized its first symposium to celebrate our 2 year anniversary. More than 120 participants from all major Bay Area institutes attended the meeting. Thanks to all invited and selected speakers, and poster presenters for sharing their exciting science!
Steven gave a talk on the role of phase separation in ALS and SCA at the Center for Brain & Disease Research at VIB-KU Leuven. Great to see some familiar faces and sit together with students and postdocs to hear all about the exciting research going on.
Our collaborative paper with the Isaacs lab is online at Acta Neuropathologica! Lauren Gittings found that symmetric dimethylation of GR is correlated with increased survival in C9orf72 patients. Such a protective role was further supported by our analyses indicating that dimethylation affects the phase separation capacity of GR and reduces its neuronal toxicity. We reported years ago that arginine methyltransferases are genetic modifiers of DPR toxicity in Drosophila. Good to see we now finally have convincing data from patients supporting this!
Steven talks to Alzforum about our recent work on nucleocytoplasmic transport defects in C9orf72 ALS/FTLD.
Our collaborative paper with the Bullock and Van den Bosch labs is online at BioRxiv! Was great to work together with Laura Fumagalli and Florence Young on this. We discovered that C9orf72 arginine-rich DPRs perturb axonal transport by directly engaging the microtubules and associated motor complexes.
Collaborative paper with the Van den Bosch lab is accepted at Scientific Reports! Congrats Joni Vanneste for all the hard work! We show that C9orf72 arginine-rich DPRs do not directly cause nucleocytoplasmic transport defects, but rather act indirectly via triggering the cellular stress response.
New website goes live!