#fragilexsyndrome — Public Fediverse posts

Hayden Eastbury spreads awareness of fragile X syndrome across ABC’s newsrooms

For Newcastle local Hayden Eastbury, the ABC is not just something he tunes into each morning, noon, and…
#NewsBeep #News #Australia #ABC #AU #disability #fragilexsyndrome #HaydenEastbury #LisaMillar #natebyrne #National #Newcastle #Newsrooms #pamelamedlan #superfan #tour #travel
https://www.newsbeep.com/au/873278/

https://www.europesays.com/ie/648445/ Scientists create brain organoids with distinct cortical regional identity #Anatomy #Autism #Brain #Cell #Cortex #Éire #FragileXSyndrome #Genetic #Health #IE #Ireland #Language #medicine #Neuroscience #Organoids #Research #Syndrome

https://www.europesays.com/ie/454225/ Astrocytes Identified as Key Target for Treating Fragile X Syndrome #astrocytes #BMPSignaling #BrainResearch #Éire #FragileXSyndrome #Health #IE #Ireland #neurodevelopment #neurology #Neuroscience #SalkInstitute

https://www.europesays.com/ie/181220/ Short Tandem Repeats May Shape Disease Severity, Treatment Response #AutismSpectrumDisorder #cancers #cardiomyopathies #DrugDevelopment(pharmacology) #Éire #FragileXSyndrome #Health #HumanGenome #IE #Ireland #News&Features #PatientCare #PrecisionMedicine #topics #TranslationalResearch #TreatmentOutcome

Nabsys Presents Novel Disease Insights and Advantages in Structural Variant Detection using OhmX™ Platform at American Society of Human Genetics (ASHG) 2025 Annual Meeting

Multi-omics study utilizing electronic genome mapping (EGM)…
#NewsBeep #News #Genetics #Anxietydisorders #AU #Australia #bladderpainsyndrome #Boston #EGM #ExomeSequencing #fragilexsyndrome #genomemapping #InterstitialCystitis #NabsysOhmXPlatformanalysis #Proteomicsdata #Researchers #Science
https://www.newsbeep.com/au/219006/

Nabsys Presents Novel Disease Insights and Advantages in Structural Variant Detection using OhmX™ Platform at American Society of Human Genetics (ASHG) 2025 Annual Meeting

Multi-omics study utilizing electronic genome mapping (…
#NewsBeep #News #Genetics #Anxietydisorders #bladderpainsyndrome #Boston #EGM #ExomeSequencing #fragilexsyndrome #genomemapping #InterstitialCystitis #NabsysOhmXPlatformanalysis #Proteomicsdata #researchers #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/205333/

https://www.europesays.com/uk/457456/ Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study #AutismSpectrumDisorder #FragileXSyndrome #GeneticDisorder #Genetics #HarmonyBiosciences #Science #ToplineResults #UK #UnitedKingdom

Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study

Harmony Biosciences Holdings, Inc. (NASDAQ:HRMY) released topline results from its Phase 3 registrational clinical trial (the RECONNECT Study)…
#NewsBeep #News #Genetics #autismspectrumdisorder #CA #Canada #fragilexsyndrome #geneticdisorder #HarmonyBiosciences #Science #toplineresults
https://www.newsbeep.com/ca/172184/

https://www.europesays.com/uk/448775/ Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study #AutismSpectrumDisorder #FragileXSyndrome #GeneticDisorder #Genetics #HarmonyBiosciences #Science #ToplineResults #UK #UnitedKingdom

Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study

Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study Harmony Biosciences Holdings, Inc. (NASDAQ:HRMY) released topline results…
#NewsBeep #News #Genetics #autismspectrumdisorder #fragilexsyndrome #geneticdisorder #HarmonyBiosciences #Science #toplineresults #UK #UnitedKingdom
https://www.newsbeep.com/uk/158041/

Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study

Harmony Biosciences’ Genetic Disorder Drug Disappoints In Phase 3 Study Harmony Biosciences Holdings, Inc. (NASDAQ:HRMY) released topline results…
#NewsBeep #News #Genetics #AU #Australia #autismspectrumdisorder #fragilexsyndrome #geneticdisorder #HarmonyBiosciences #Science #toplineresults
https://www.newsbeep.com/au/166417/

PacBio Targets Carrier Screening, Aims to Simplify Genetic Testing

PacBio is known in the genomics space for its HiFi sequencing technology—which provides long, highly accurate reads. But…
#NewsBeep #News #Genetics #Ataxia #fragilexsyndrome #Genes #genetictesting(diagnostictechnique) #High-throughputscreening #industrynews #neurologicalsymptoms #omics #pacbio #Science #spinalmuscularatrophy #topics #UK #UnitedKingdom
https://www.newsbeep.com/uk/154060/

PacBio Targets Carrier Screening, Aims to Simplify Genetic Testing

PacBio is known in the genomics space for its HiFi sequencing technology—which provides long, highly accurate reads. But…
#NewsBeep #News #Genetics #Ataxia #AU #Australia #fragilexsyndrome #Genes #genetictesting(diagnostictechnique) #High-throughputscreening #IndustryNews #neurologicalsymptoms #omics #pacbio #Science #spinalmuscularatrophy #topics
https://www.newsbeep.com/au/162045/

Servier acquires potential treatment for Fragile X syndrome, the most common genetic cause of autism spectrum disorder

Servier acquires KER-0193, a potential treatment for Fragile X syndrome, developed by Kaerus Bioscience, a Medicxi company KER-0193,…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #autismspectrumdisorder #Bioscience #development #FragileXsyndrome #geneticcause #OrphanDrugDesignation #PediatricDrug #Science #Servier
https://www.newsbeep.com/us/141283/

Atypical #sensory processing is a common symptom in #AutismSpectrumDisorders. This study reveals impaired frequency discrimination in a rat model of #FragileXsyndrome that is associated with #auditory cortical hyperexcitability & degraded tuning quality #FraX @PLOSBiology https://plos.io/4kl46Pk

What exactly is fragile X syndrome?
https://www.msn.com/en-gb/health/familyhealth/what-exactly-is-fragile-x-syndrome/ss-AA1eakYk?cvid=0fa2303f031444d29a8c5df57ab729db&ocid=winp2fptaskbarhover&ei=15

#FragileXSyndrome

Debut drug for Rett syndrome at edge of approval

https://www.spectrumnews.org/news/debut-drug-for-rett-syndrome-at-edge-of-approval/

#fragileXsyndrome #Rettsyndrome #mousemodels #treatments #autism #DSM-IV #MECP2 #News

Going on Trial: Orphan drugs; CBD; bumetanide

https://www.spectrumnews.org/news/going-on-trial-orphan-drugs-cbd-bumetanide/

#inhibitorysignaling #fragileXsyndrome #clinicaltrials #Rettsyndrome #genetherapy #mousemodels #funding #autism #22q11 #MECP2 #News #FMR1

Neurons struggle to spike without fragile X gene

https://www.spectrumnews.org/news/neurons-struggle-to-spike-without-fragile-x-gene/

#fragileXsyndrome #prefrontalcortex #dendrites #autism #cortex #News #FMR1 #FMRP

The clinical presentation of #FragileXSyndrome ranges from
#autism and intellectual disability to #neurodegeneration.

A new Review from Rob Willemsen & Frank Kooy at #erasmusmcintl discusses #MouseModels that improve our understanding of this disease to help develop targeted #therapies

📰https://journals.biologists.com/dmm/article/16/2/dmm049485/286737/

Going on Trial: Arbaclofen reboot; cell implants; psilocybin microdoses

https://www.spectrumnews.org/news/going-on-trial-arbaclofen-reboot-cell-implants-psilocybin-microdoses/

#fragileXsyndrome #clinicaltrials #goingontrial #arbaclofen #epilepsy #seizures #autism #News #ADNP #GABA

Missing mechanism helps solve fragile X protein mystery

https://www.spectrumnews.org/news/missing-mechanism-helps-solve-fragile-x-protein-mystery/

#intellectualdisability #repetitivebehaviors #socialdifficulties #fragileXsyndrome #neuralcircuits #connectivity #hippocampus #mousemodels #treatments #synapses #autism #News #FMR1 #FMRP

Honey bees: understanding autism & social behaviour

https://embrace-autism.com/honey-bees-understanding-autism-social-behaviour/

#Restrictedandrepetitivebehaviors(RRBs) #Socialmotivationtheoryofautism #Thedopaminehypothesisofautism #Object-basedattention #Dopaminergicpathways #Repetitivebehaviours #In-groupfavoritism #Mesolimbicpathway #SimonBarron-Cohen #Tuberoussclerosis #FragileXsyndrome #Neurotransmitter #Prefrontalcortex #Socialmotivation #Autismexplained #Autismdiagnosis #Tribalism

Autism and the cell’s antennae

https://www.spectrumnews.org/news/autism-and-the-cells-antennae/

#intellectualdisability #neurotransmitters #tuberoussclerosis #fragileXsyndrome #geneexpression #schizophrenia #mousemodels #stemcells #epilepsy #synapses #16p11.2 #autism #cortex #DYRK1A #axons #News

Mouse models help sniff out olfactory differences in autism

https://www.spectrumnews.org/news/mouse-models-help-sniff-out-olfactory-differences-in-autism/

#sensoryperception #fragileXsyndrome #hippocampus #oxytocin #CNTNAP2 #autism #SHANK3 #News #FMR1

Decoding sensory brain networks: A quick take at SfN with Ethan Scott

https://www.spectrumnews.org/news/decoding-sensory-brain-networks-a-quick-take-at-sfn-with-ethan-scott/

#sensoryperception #fragileXsyndrome #animalmodels #brainimaging #zebrafish #autism #videos #News #FMR1

Mouse studies cast astrocytes as stars of sensory perception

https://www.spectrumnews.org/news/mouse-studies-cast-astrocytes-as-stars-of-sensory-perception/

#inhibitorysignaling #sensoryperception #fragileXsyndrome #geneexpression #mousemodels #astrocytes #seizures #synapses #hearing #autism #touch #News #FMR1 #GABA

Two-drug combo blunts autism-linked pathway in brain

https://www.spectrumnews.org/news/toolbox/two-drug-combo-blunts-autism-linked-pathway-in-brain/

#tuberoussclerosiscomplex #fragileXsyndrome #mousemodels #Toolbox #autism #PTEN

Fragile X neurons develop atypically in chimeric mice

https://www.spectrumnews.org/news/fragile-x-neurons-develop-atypically-in-chimeric-mice/

#fragileXsyndrome #mousemodels #autism #News #FMR1 #FMRP

The cloudy connection between fragile X and cancer

https://www.spectrumnews.org/news/the-cloudy-connection-between-fragile-x-and-cancer/

#intellectualdisability #tuberoussclerosis #fragileXsyndrome #autism #cancer #News #FMR1 #FMRP #PTEN #TSC1

How star cells’ secretions may stunt neurons: Q&A with Nicola Allen

https://www.spectrumnews.org/opinion/how-star-cells-secretions-may-stunt-neurons-qa-with-nicola-allen/

#fragileXsyndrome #Rettsyndrome #astrocytes #synapses #Opinion #autism #QA

Largest-yet fragile X mutation in mice confirms model’s shortcomings

https://www.spectrumnews.org/news/largest-yet-fragile-x-mutation-in-mice-confirms-models-shortcomings/

#fragileXsyndrome #geneexpression #epigenetics #mousemodels #autism #News #FMR1 #FMRP

In deep water with Gül Dölen

https://www.spectrumnews.org/news/profiles/in-deep-water-with-gul-dolen/

#fragileXsyndrome #mousemodels #evolution #serotonin #Profiles #oxytocin #autism #mGluR5 #FMR1

Plethora of protein-making machines in neurons may underlie fragile X

https://www.spectrumnews.org/news/plethora-of-protein-making-machines-in-neurons-may-underlie-fragile-x/

#synapticplasticity #fragileXsyndrome #geneexpression #hippocampus #mousemodels #SFARIGene #autism #mGluR5 #News #FMR1 #FMRP

Portrait of a research field: astrocytes in autism

https://www.spectrumnews.org/features/deep-dive/portrait-of-a-research-field-astrocytes-in-autism/

#excitatorysignaling #inhibitorysignaling #signalingimbalance #fragileXsyndrome #postmortembrains #geneexpression #Rettsyndrome #environment #mousemodels #astrocytes #organoids #DeepDive #seizures #synapses #autism #MECP2 #FMR1 #FMRP #GABA

Meet the company trying precision medicine for autism

https://www.spectrumnews.org/features/deep-dive/meet-the-company-trying-precision-medicine-for-autism/

#fragileXsyndrome #machinelearning #bioinformatics #clinicaltrials #geneexpression #endophenotype #biomarkers #metabolism #technology #treatments #diagnosis #DeepDive #autism #EEG

Heart anomalies abound in mouse models of autism

https://www.spectrumnews.org/news/heart-anomalies-abound-in-mouse-models-of-autism/

#fragileXsyndrome #mousemodels #16p11.2 #autism #SHANK3 #News #CHD8 #FMR1

A whisper of autism: Fragile X carriers and the autism phenotype

https://www.spectrumnews.org/opinion/viewpoint/a-whisper-of-autism-fragile-x-carriers-and-the-autism-phenotype/

#fragileXsyndrome #bipolardisorder #genetictesting #endophenotype #aripiprazole #depression #Viewpoint #anxiety #autism #FMR1 #FMRP

Hollis Cline: Leapfrogging over gaps in autism research

https://www.spectrumnews.org/news/profiles/hollis-cline-leapfrogging-over-gaps-in-autism-research/

#fragileXsyndrome #brainimaging #Rettsyndrome #Profiles #autism #MECP2 #FMR1

Location prompts fragile X protein to flip its function

https://www.spectrumnews.org/news/location-prompts-fragile-x-protein-to-flip-its-function/

#signalingimbalance #synapticplasticity #learningandmemory #fragileXsyndrome #hippocampus #seizures #synapses #autism #News #FMRP

Meet the ‘mitomaniacs’ who say mitochondria matter in autism

https://www.spectrumnews.org/features/deep-dive/meet-the-mitomaniacs-who-say-mitochondria-matter-in-autism/

#intellectualdisability #fragileXsyndrome #oxidativestress #mitochondria #Rettsyndrome #mousemodels #metabolism #treatments #diagnosis #stemcells #DeepDive #synapses #autism #CRISPR #FMR1 #PTEN

New gene-editing tools delete long stretches of DNA

https://www.spectrumnews.org/news/toolbox/new-gene-editing-tools-delete-long-stretches-of-dna/

#copynumbervariation #fragileXsyndrome #genetherapy #Toolbox #autism #CRISPR

Fragile X theory falters on amygdala test

https://www.spectrumnews.org/news/fragile-x-theory-falters-on-amygdala-test/

#synapticplasticity #fragileXsyndrome #hippocampus #amygdala #mGluR5 #News #rats

Subset of autism cases linked to mutations in noncoding genome

https://www.spectrumnews.org/news/subset-of-autism-cases-linked-to-mutations-in-noncoding-genome/

#fragileXsyndrome #genetictesting #sequencing #autism #News #FMR1

Finding a path forward for fragile X drugs

https://www.spectrumnews.org/news/finding-a-path-forward-for-fragile-x-drugs/

#fragileXsyndrome #clinicaltrials #biomarkers #treatments #language #autism #News #FMR1 #FMRP #EEG