pacs1foundation (@pacs1foundation) header
pacs1foundation (@pacs1foundation) profile picture

pacs1foundation

@pacs1foundation

Our goal is to find a treatment for PACS1 - a rare neuro-genetic disorder caused by a mutation of the PACS1 gene.

pacs1foundation.org
Joined April 2021
  • Tweets331
  • Following322
  • Followers232
42Media
Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)Photo by pacs1foundation (@pacs1foundation)
Read it here: nature.com/articles/s41467-0…
Northwestern Feinberg School of Medicine (@NUFeinbergMed) profile pictureNorthwestern Feinberg School of Medicine@NUFeinbergMed5 Feb 2024
Replying to @NUFeinbergMed
This study has paved the way for future investigators to identify and test therapies that repair the phenotype observed in neurons with the #PACS1Mutation.
Image from Northwestern Feinberg School of Medicine (@NUFeinbergMed)
2
3
623
Huge shout out to @L_Rylaarsdamfor leading this project as part of her time as @NuinCommPhD student, and co-authors @eleanorpope_ and Jennifer Rakotomamonjy! Thanks @pacs1foundation, @NIH_NINDS #RareDisease #organoids #neurodevelopment
Northwestern Feinberg School of Medicine (@NUFeinbergMed) profile pictureNorthwestern Feinberg School of Medicine@NUFeinbergMed5 Feb 2024
Investigators from the @GuemezGamboaLab have discovered new molecular mechanisms of #PACS1Syndrome, a rare neurodevelopmental disorder, per @NatureComms. news.feinberg.northwestern.e…
Study Identifies Molecular Mechanisms of Rare Neurodevelopmental Disorder - News Center

Study Identifies Molecular Mechanisms of Rare Neurodevelopmental Disorder - News Center

Investigators from the laboratory of Alicia Guemez-Gamboa, PhD, assistant professor of Neuroscience, have discovered new molecular mechanisms of PACS1 syndrome, a rare neurodevelopmental disorder,...

news.feinberg.northwestern.edu
2
5
511
Awesome paper, make sure to check it out! 👇
Alicia Guemez-Gamboa (@GuemezGamboaLab) profile pictureAlicia Guemez-Gamboa@GuemezGamboaLab29 Feb 2024
Happy to share that our paper is out @NatureComms! nature.com/articles/s41467-0… Congrats @L_Rylaarsdam for leading this project, and co-authors @eleanorpope_ and Jennifer Rakotomamonjy Huge thanks @pacs1foundation, @NIH_NINDS #PACS1syndrome #neurodevelopment #organoids #RareDisease
2
6
399
Read the study here: nature.com/articles/s41467-0…
Northwestern Feinberg School of Medicine (@NUFeinbergMed) profile pictureNorthwestern Feinberg School of Medicine@NUFeinbergMed5 Feb 2024
Investigators from the @GuemezGamboaLab have discovered new molecular mechanisms of #PACS1Syndrome, a rare neurodevelopmental disorder, per @NatureComms. news.feinberg.northwestern.e…
Study Identifies Molecular Mechanisms of Rare Neurodevelopmental Disorder - News Center

Study Identifies Molecular Mechanisms of Rare Neurodevelopmental Disorder - News Center

Investigators from the laboratory of Alicia Guemez-Gamboa, PhD, assistant professor of Neuroscience, have discovered new molecular mechanisms of PACS1 syndrome, a rare neurodevelopmental disorder,...

news.feinberg.northwestern.edu
4
8
1,624
Happy to share that our paper is out @NatureComms! nature.com/articles/s41467-0… Congrats @L_Rylaarsdam for leading this project, and co-authors @eleanorpope_ and Jennifer Rakotomamonjy Huge thanks @pacs1foundation, @NIH_NINDS #PACS1syndrome #neurodevelopment #organoids #RareDisease
8
9
3
50
5,411
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/s41467-0… @pacs1foundation seed funding contributed to this work; excited for further collaborations towards a cure!
Image from pacs1foundation (@pacs1foundation)
2
2
10
1,157
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/pacs1foundation/a…
Image from pacs1foundation (@pacs1foundation)
1
3
486
Excited to share this prestigious opportunity by @GuemezGamboaLab to present at the world wide neuroscience conference. We couldn’t be more grateful to have Alicia on board! Thank you @GuemezGamboaLab for your dedication to PACS1 Syndrome world-wide.org/seminar/9010/
2
1
11
708
Out in @NatureGenet, an international study led by @jogleeson_ucsd has made a significant breakthrough in understanding the genetic causes of pediatric #epilepsy and other neurodevelopmental disorders today.ucsd.edu/story/study-i…
Study Identifies Cause for Mysterious Cases of Epilepsy in Children

Study Identifies Cause for Mysterious Cases of Epilepsy in Children

An international consortium led by UC San Diego has identified at least some of the genetic drivers of a mysterious form of pediatric epilepsy.

today.ucsd.edu
4
1
6
732
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/s41467-0…
Image from Joseph G. Gleeson (@jogleeson_ucsd)
2
14
2
63
12,237
Awesome followup to @ItanLab '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! Check it out! biorxiv.org/content/10.1101/…
1
12
25
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… – at Dedham, MA
1
8
Replying to @greally
Thx so much @greally! Paper downloadable at authors.elsevier.com/a/1g3s0… – at San Diego, CA
1
3
4
pacs1foundation retweeted
John Greally (@greally) profile picture
John Greally@greally20 Nov 2022
Brilliant idea from Joe Gleeson, preprint on 🐘[email protected], adding a category of ‘Treatability’ to genomic diagnostic reports biorxiv.org/content/10.1101/…
Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense Oligonucleotides

Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense Oligonucleotides

Genome sequencing in the clinic often allows patients to receive a molecular diagnosis. However, variants are most often evaluated for pathogenicity, neglecting potential “treatability”, and thus...

biorxiv.org
1
3
6
pacs1foundation retweeted
n-Lorem Foundation (@n_lorem) profile picture
n-Lorem Foundation@n_lorem31 Oct 2022
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. @GalienFdn
Image from n-Lorem Foundation (@n_lorem)
Image from n-Lorem Foundation (@n_lorem)
3
5
1
29
Phenomenal #stjudes ultrarare disease symposium today on personalized antisense drugs. The future of personalized antisense drugs for #nanorare disease and #nlorem is very bright! – at Memphis, TN
Image from Joseph G. Gleeson (@jogleeson_ucsd)
1
12
pnas.org/doi/10.1073/pnas.22… Love this paper as an example genetics leading to treatment. @EmmanuelMignot8 (recent @brkthroughprize with Masashi Yanagisawa), discoverer of orexin receptor, now found a selective agonist that remarkably improves #narcolepsy in mouse and human.
Orexin 2 receptor–selective agonist danavorexton improves narcolepsy phenotype in a mouse model and...

Orexin 2 receptor–selective agonist danavorexton improves narcolepsy phenotype in a mouse model and...

Narcolepsy type 1 (NT1) is a sleep disorder caused by a loss of orexinergic neurons. Narcolepsy type 2 (NT2) is heterogeneous; affected individuals...

pnas.org
3
11
The inspiration behind our foundation Alya rings the bell at her school @OG870Leaders to start the school day ! #rareasone #curepacs1 #oldgreenwichschool
2
6
@pacs1foundation Annual Scientific Conference is in just TWO WEEKS; this will be our largest gathering yet of researchers working on PACS1 Syndrome. Grateful to @ChanZuckerberg for funding this through our #RareAsOne grant. Thank you @jogleeson_ucsd for your continued leadership
Image from pacs1foundation (@pacs1foundation)
1
2
6
pacs1foundation retweeted
n-Lorem Foundation (@n_lorem) profile picture
n-Lorem Foundation@n_lorem14 Sep 2022
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
Image from n-Lorem Foundation (@n_lorem)
5
18
Load more