New research from #OpenBiology: Extracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice royalsocietypublishing.org/rsob/article... | #Neuroscience #FragileXSyndrome

Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view - Journal of Neurodevelopmental Disorders Background There have been increasing numbers of clinical trials of medications for fragile X syndrome (FXS) in recent years, many targeted at proposed underlying cellular or circuit based mechanisms....

An insightful new paper from Sarah Eley, Syndi Weissgold and Andrew Stanfield, exploring caregivers' perspectives on gene therapy in #fragileXsyndrome: edin.ac/3KT8JEu

Therapeutic strategies for Fragile X Syndrome (FXS) aimed at CGG repeat contraction, demethylation of the FMR1 gene, and elimination of the FMR1-217 isoform to restore normal FMR1 expression and FMRP levels #FragileXSyndrome #RepeatEexpansion #SplicingDysregulation bit.ly/4fZOf6R

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

Top: Schematic of Bayesian decoding from a simulated network of tonotopically organized neurons whose tuning parameters are derived from the population data recorded from the auditory cortex (ACx) or inferior colliculus (IC) of either WT or Fmr1 KO rats. Bottom: Schematic summarizing results. Cortical gain enhancement in FXS may act to preserve signal-to-noise ratios and signal detection threshold at the expense of sound sensitivity and fine feature discrimination.

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.org 🧪 plos.io/4kl46Pk

Top: Schematic of Bayesian decoding from a simulated network of tonotopically organized neurons whose tuning parameters are derived from the population data recorded from the auditory cortex (ACx) or inferior colliculus (IC) of either WT or Fmr1 KO rats. Bottom: Schematic summarizing results. Cortical gain enhancement in FXS may act to preserve signal-to-noise ratios and signal detection threshold at the expense of sound sensitivity and fine feature discrimination.

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.org 🧪 plos.io/4kl46Pk

Top: Schematic of Bayesian decoding from a simulated network of tonotopically organized neurons whose tuning parameters are derived from the population data recorded from the auditory cortex (ACx) or inferior colliculus (IC) of either WT or Fmr1 KO rats. Bottom: Schematic summarizing results. Cortical gain enhancement in FXS may act to preserve signal-to-noise ratios and signal detection threshold at the expense of sound sensitivity and fine feature discrimination.

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.org 🧪 plos.io/4kl46Pk

Therapeutic strategies for Fragile X Syndrome (FXS) aimed at CGG repeat contraction, demethylation of the FMR1 gene, and elimination of the FMR1-217 isoform to restore normal FMR1 expression and FMRP levels bit.ly/4i2UpF2
#FragileXSyndrome #Repeatexpansion #Splicingdysregulation

Emerging autism and Fragile X syndrome treatments The limitations of current symptom-focused treatments drive the urgent need for effective therapies for autism and Fragile X syndrome (FXS). Currently…

Check out our latest review @cp-trendspharma.bsky.social, outlining emerging pharmacological interventions for #autism and #fragileXsyndrome. A nice collaboration with Amedeo D'Agiulli, Vivian Lee and @salmasolab.bsky.social! #neuroskyence:
www.sciencedirect.com/science/arti...

Genetic mutations to the protein #FMRP are known to be associated with the #FragileXSyndrome, which affects millions worldwide. In this work, the scientists examined new roles of FMRP in #neuron cells, primarily through the health of their #mitochondria.

The 5 Most Common Rare Diseases in Children The 5 most common rare diseases in children - understand what they are, what can cause them, and their most common symptoms.

"Awareness and understanding of rare diseases are crucial for improving the lives of those affected. "

#Rare #DownSyndrome #TurnerSyndrom #FragileXSyndrome #TaySachsSyndrome #Phenylketonuria

fdna.com/health/resou...

Thank the Lord for TMS and @aatifnawaz.bsky.social @norcrosscricket.bsky.social @henrymoeran.bsky.social Alex Hartley. TMS is the only radio programme that T will tolerate so I was spared 200 miles of The Tweenies singing some ghastly song on our journey today. #FragileXSyndrome #epilepsy

#Women who start into #earlymenopause in their 30's to early 40's need to be tested for #fragileXsyndrome - a #geneticdisorder that is important to know about. Call your doctor for a #bloodtest or #mouthswab.
#menopause #genetictesting

#ComposerBirthdayFacts: Around 1896, Anton Verheij supported Branco van Dantzig, a voice teacher who worked with children with speech difficulties.

#JeremyDuck #DrDuck #HipsterBrahms #ComposerBirthday #Verheij #Dantzig #ArticulationDisorder #ApraxiaOfSpeech #FragileXSyndrome #Stuttering #Autism

Fragile X Treatment Gets Fast Track Designation - Research Horizons

Hopeful news for those coping with #FragileXSyndrome. Congrats to Dr. Erickson @cincychildrens.bsky.social
for his principal investigator role! #Autism #Neurology scienceblog.cincinnatichildrens.org/fragile-x-tr...