Servier bets $450m on Fragile X syndrome drug Servier has pushed its emerging neurology pipeline into the clinical trials stage by licensing a drug for Fragile X syndrome from the UK's Kaerus.

#biotech #Servier #FragileXsyndrome #FXS #rarediseases #KaerusBioscience #FRAXAResearchFoundation #FXStherapies #orphandrug #rarepaediatricdrugdesignation #FDA #neurodevelopmentaldisorder #raremovementdisorder #lifesciencesventurecapital #Medicxi #BKchannelmodulatorprogramme
zurl.co/EPSas

Um marca-página de crochê nas cores do arco-íris com um símbolo do infinito branco no meio, representando assim a neurodiversidade, está dentro de um livro que está aberto, chamado "Anayde Beiriz: A última confidência", escrito por Valeska Asfora.

Um marca-página de crochê nas cores do arco-íris com um símbolo branco do infinito no meio, que foi feito para representar a neurodiversidade, está em cima do livro "Anayde Beiriz: A última confidência" de Valeska Asfora.

Fiz um marca-página representando a neurodiversidade! ♾️🌈✨️

#neurodiversidade #neurodivergência #neurodivergent #neurodiversity #nd #rainbow #crochet #crochê #bookmark #marcapáginas #neurodevelopmentaldisorder #art #craft #crafting #hyperfocus #atypical #atípico #neuroatípico

Key point: MBOAT7 encephalopathy is a rare autosomal recessive cause of neurodevelopmental disorders and epilepsy.
doi.org/10.1111/epi.... Open Access

#epilepsy #ilae #epilepsia #electroencephalography #genetics #lysophosphatidylinositolacyltransferase1 #neurodevelopmentaldisorder

Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer Proteins implicated in neurodevelopmental disorders (NDDs) and cancer have been identified from analyses of genomic variation. Some of these proteins occur in both phenotypes, but the reason for this ...

Our new paper is online today in Cell Genomics “Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer”
www.cell.com/cell-genomic...
#genetics #protein #cancer #neurodevelopmentalDisorder #TNTurnerLab @washugenetics.bsky.social

Key point: ANK2 pathogenic variants can cause epilepsies in addition to cardiac arrhythmia. Most ANK2 related epilepsies are self-limited and pharmacoresponsive.
doi.org/10.1002/epi4...

#epilepsy #ILAE #ANK2 #ANKB #arrhythmia #neurodevelopmentaldisorder

Adults with ADHD die 7 to 9 years sooner, alarming study shows Seven years. That's how much sooner men with ADHD are dying compared to their neurotypical peers, and for women, the outlook is even bleaker at nearly nine years. The post Adults with ADHD die 7 to 9...

Adults with ADHD die 7 to 9 years sooner, alarming study shows #Science #HealthandMedicine #Neurology #ADHD #Mortality #NeurodevelopmentalDisorder

P.S.: yes, I know it's not a full book...but my mom will be happy in any case 😄 🥰

#science #CAPRIN1 #RareDisease #NeurodevelopmentalDisorder