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Tomorrow, n -Lorem’s Chief Operating Officer, Sarah Glass, is speaking on a panel at the Rare-X conference. Join her as she speaks about N-of-1 Therapies amongst others, either in person or virtually. #CareAboutRare #RareDisease #RareCommunity #nlorem #nanorare

pacs1foundation Annual Scientific Conference is in just TWO WEEKS; this will be our largest gathering yet of researchers working on PACS1 Syndrome. Grateful to Chan Zuckerberg Initiative for funding this through our #RareAsOne grant. Thank you Joseph G. Gleeson for your continued leadership

The inspiration behind our foundation Alya rings the bell at her school OGSAdministration to start the school day ! #rareasone #curepacs1 #oldgreenwichschool

pnas.org/doi/10.1073/pn… Love this paper as an example genetics leading to treatment. Mignot Lab (recent Breakthrough with Masashi Yanagisawa), discoverer of orexin receptor, now found a selective agonist that remarkably improves #narcolepsy in mouse and human.

Phenomenal #stjudes ultrarare disease symposium today on personalized antisense drugs. The future of personalized antisense drugs for #nanorare disease and #nlorem is very bright!

Congratulations to Stanley T. Crooke, M.D., Ph.D., the Founder, Chairman and CEO of n-Lorem, for receiving The Pro Bono Humanum Award from the #PrixGalienUSA. The Galien Foundation

Just released heartwarming pacs1foundation new video to help newly diagnosed families know why scientists think we can find cures. m.youtube.com/watch?v=eUnI0H…

Brilliant idea from Joe Gleeson, preprint on 🐘[email protected], adding a category of ‘Treatability’ to genomic diagnostic reports biorxiv.org/content/10.110…

John Greally Thx so much John Greally! Paper downloadable at authors.elsevier.com/a/1g3s0_yeTfND…

Awesome followup to Yuval Itan 'GOF/LOF' database @LoGoFunc now predicts functional effects of all human variants using ensemble learning. Historically a bottleneck in deciding on #ASO #therapy at n-Lorem Foundation! Check it out! biorxiv.org/content/10.110…

When will #mutation variant prediction programs it right? Gain-of-function missense variants clustered in protein 3D space much more than LOFs, yet current programs miss this information! Great paper pointing out the dilemma. nature.com/articles/s4146…

Out in Nature Genetics, an international study led by Joseph G. Gleeson has made a significant breakthrough in understanding the genetic causes of pediatric #epilepsy and other neurodevelopmental disorders today.ucsd.edu/story/study-id…

Excited to share this prestigious opportunity by Alicia Guemez-Gamboa to present at the world wide neuroscience conference. We couldn’t be more grateful to have Alicia on board! Thank you Alicia Guemez-Gamboa for your dedication to PACS1 Syndrome world-wide.org/seminar/9010/

We are thrilled to share that the pacs1foundation has received a generous donation of well over $1 million over the next 4 years to help us in our fight against PACS1 Syndrome! Please click the link below to learn more mailchi.mp/pacs1foundatio…

JOIN US in congratulating Dr. Alicia Guemez-Gamboa on her recent paper on PACS1 Syndrome in Nature Communications. ​​🎉 Read the publication here: nature.com/articles/s4146… pacs1foundation seed funding contributed to this work; excited for further collaborations towards a cure!

Happy to share that our paper is out Nature Communications! nature.com/articles/s4146… Congrats Lauren Rylaarsdam for leading this project, and co-authors Eleanor Pope and Jennifer Rakotomamonjy Huge thanks pacs1foundation, NINDS #PACS1syndrome #neurodevelopment #organoids #RareDisease

Awesome paper, make sure to check it out! 👇

Huge shout out to @L_Rylaarsdamfor leading this project as part of her time as @NuinCommPhD student, and co-authors Eleanor Pope and Jennifer Rakotomamonjy! Thanks pacs1foundation, NINDS #RareDisease #organoids #neurodevelopment

Read it here: nature.com/articles/s4146…

Read the study here: nature.com/articles/s4146…