📢 Are you interested in laminopathies, desminopathies, Alexander disease, etc. Then join us in Spain (June 15-21, 2024), where we will share and discuss the latest on intermediate filament research in a beautiful setting. Apply now: GRC: tinyurl.com/43jms2t5 Connecting Intermediate Filaments Seminars

Seeking an Assistant/Associate Professor in Human Cell Models for Disease! Are you an iPSC-based human disease models expert? Passionate about unraveling disease mechanisms & advancing treatments? This could be your next career move! tinyurl.com/4exkrm7f

Today is Alexander Disease day, and we posted an update about Max, research and fundraising in German and English to our GoFundMe: gofundme.com/f/help-max-fin…

#endaxd #raredisease

This platform and the internet is still amazing. I got a DM – thank you so much.

Does anyone have experience or know anyone who has experience with Ma'ayan Lab's L1000CDS2 tool and would be willing to spend an hour with me on a video call for a good cause?

'Brain-cell transplants are the newest experimental epilepsy treatment' – It is mind-blowing and hope inspiring what biotechnology and medicine are making possible today. Beautiful stories of lives restored from the trauma that is epilepsy.
…chnologyreview-com.cdn.ampproject.org/c/s/www.techno…

This gene therapy for metachromatic leukodystrophy took impossibly long to get approved and still has difficult market dynamics (few patients)

We wrote the super tragic events surrounding its dramatic demonstration of efficacy eight years ago. technologyreview.com/2016/07/20/158…

Begging the universe for just one break. Just one decision, one odd, to fall in favour of our Max.

Neurology Young Investigator Grant Program from IONIS ($50,000) to advance the understanding of Alexander Disease, including
Basic and Translational Science. ionispharma.com/ionis-technolo… (cc Pranam Chatterjee Erika Gyengesi Rohit Singh) #endaxd #RareDisease

Excited and grateful to Prof Chatterjee who responded to a tweet/email, #EndAxD , all donors, Google Scholar alerts and AI for a potentially new way to tackle Alexander Disease and the tricky protein that causes it. Successfully binding and degrading GFAP could be a big deal.

Does anyone know anyone at Nano Imaging Services, or any institution with Cryo-EMs that are potentially open to using them and their own resources non-commercially? Long shot, I know.

12 months ago I had no idea what GFAP, STAT3, Nrf2, the ISR, senescence, oxidative stress, mitochondria, small molecules, peptides, AAVs, iPSCs, anti-sense oligonucleotides or protein language models were. I still don't, really, but enough to ask people dumb questions.

Gemini is helping me inspire scientists to work on Alexander Disease.

It summarises papers, connects findings from one with insights into Alexander disease from another, generates hypotheses and suggestions for potential proof of concept experiments.
Life changing.

Today, on Rare Disease Day, DER STANDARD published an informative article about Max and our battle to find treatments and eventually a cure for Alexander Disease. It's an uphill battle, but we're not giving up, and we hope neither will you. #endaxd derstandard.at/story/30000002…

Soon there will be no disease-causing point mutations that cannot be repaired by #CRISPR - the technology is getting that good.
= this shines a harsh light on the sense of urgency for developing accelerated and affordable pipelines for building on-demand gene editing medicines.

GFAP, the protein that causes the very rare AxD most people heard of is also the major predictive biomarker for dementia and Alzheimer's. Rare diseases may hold the keys to understanding mainstream ones. theguardian.com/society/2024/f…