#spinalmuscularatrophy — Public Fediverse posts

How a tank of zebrafish helped two children born with a rare genetic variant

Two tiny babies born on different sides of the world have avoided medical treatment costing millions of dollars,…
#NewsBeep #News #Health #AU #Australia #Biomedicine #Genomics #griffithuniversity #MedicalResearch #smn1variant #spinalmuscularatrophy #zebrafish
https://www.newsbeep.com/au/433232/

Research Assistant
Keele University

We are recruiting a Research Assistant to work on an exciting project aimed at defining the role of brown adipose tissue in spinal muscular atrophy.

See the full job description on jobRxiv: https://jobrxiv.org/job/keele-university-27778-research-assistant/

#brownadiposetissue #molecularbiology #mousemodels #Neuromusculardiseases #primarycellculture #spinalmuscularatrophy #Sc...
https://jobrxiv.org/job/keele-university-27778-research-assistant/?fsp_sid=3917

@thetransmitter

That's a massive big deal! Pins motor neuron degeneration on the lack of excitation supplied by its presynaptic interneurons rather than a problem intrinsic to the motor neurons themselves.

This is very much in agreement with findings in the fruit fly over a decade ago, where a key issue in a fly model for SMA (spinal muscular atrophy) is not in the motor neurons themselves but in the interneurons that synapse onto them and in the proprioceptive neurons that supply excitatory feedbacks.

"SMN Is Required for Sensory-Motor Circuit Function in Drosophila", Imlach et al. (McCabe lab) 2012.
http://dx.doi.org/10.1016/j.cell.2012.09.011

#neuroscience #SMA #SpinalMuscularAtrophy #Drosophila

Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China | BMC Neurology

Spinal deformities are prevalent in 84.0% of SMA patients, and 82.1% experience joint def…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Disease-modifyingtherapies #Neurochemistry #Neurology #Neurosurgery #Nusinersen #Risdiplam #Science #spinalmuscularatrophy #Treatmentsatisfaction
https://www.newsbeep.com/us/205027/

Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China | BMC Neurology

Spinal deformities are prevalent in 84.0% of SMA patients, and 82.1% experience joint def…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Disease-modifyingtherapies #Neurochemistry #Neurology #Neurosurgery #Nusinersen #Risdiplam #Science #spinalmuscularatrophy #Treatmentsatisfaction
https://www.newsbeep.com/us/205027/

Research Assistant
Keele University

We are recruiting a Research Assistant to work on an exciting project aimed at defining the role of brown adipose tissue in spinal muscular atrophy.

See the full job description on jobRxiv: https://jobrxiv.org/job/keele-university-27778-research-assistant/

#brownadiposetissue #molecularbiology #mousemodels #Neuromusculardiseases #primarycellculture #spinalmuscularatrophy #Sc...
https://jobrxiv.org/job/keele-university-27778-research-assistant/?fsp_sid=3469

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/

https://www.europesays.com/uk/200752/ Screening for genetic mutations in couples before they conceive #CysticFibrosis #FragileX #GeneticCarrierScreening #GeneticDisorder #GeneticDisorders #Genetics #Health #Mackenzie'sMission #medical #NormanSwan #Podcast #PreeyaAlexander #program #Science #screening #show #SpinalMuscularAtrophy #Testing #TheHealthReport #UK #UnitedKingdom

Mackenzie’s Mission: With special guest:

*

Jonny Casella
… in conversation with Bill Kable

Before we hear from Jonny about the ground breaking medical mission inspired by little Mackenzie Casella we need to find out about Jonny and Rachael’s journey.

Fortunately not many of us face the tragedy and trauma that Jonny did after deciding to become a father. And having been… http://www.dadsontheair.com.au/shows/mackenzies-mission-2.html?utm_source=dlvr.it&utm_medium=mastodon #MackenziesMission #SMA #SpinalMuscularAtrophy #GeneticResearch #ParentingJourney

Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes. https://doi.org/10.1038/s41598-024-60593-7 #SpinalMuscularAtrophy,Sma #SurvivalMotorNeuron,Smn #CircularRna,Circrna #Proteome #Transcriptome

Could I have some feedback from quad or neuromuscular crips who have used muscle stimulators like the PowerDot? What gains have it made?

#quadriplegic #SpinalMuscularAtrophy #disability #DisabilitySports

#Introduction Part 1/2
I’m Victoria, a #Millennial in #Boise #Idaho. Hablo #Español
Identity:
🤓 #Nerd #NerdGirl
♿️ #Disabled #Disability #Accessibility #A11y #CripTheVote #WheelLife #ChronicIllness #SpinalMuscularAtrophy #SMA #CureSMA
🍓🪶 #Potawatomi #Bodwewadmi #Bodewadmi #Nishnabe #Neshnabe #Anishinaabe #Native #NativeMastodon #NativesVote #Indigenous #Indigedon #NDN #WaterIsLife #LandBack #MMIW #MMIWG
✝️ #ProgressiveChristian #ProgressiveChristianity #Deconstruction #DeconstructionReconstruction

@cv_cev #spinalmuscularatrophy