we study the inherited neurodegenerative disorders SMA and CMT @hopkinsmedicine

Baltimore, MD
Joined February 2021
For #SMAAwarenessMonth 💜 we want to highlight new research offering hope for treating spinal muscular atrophy before birth. The @MackenzieTippi lab and @SumnerLab found that intra-amniotic delivery of SMN2 ASOs improved survival and motor function in SMA mouse models, surpassing outcomes of postnatal treatment.
Antisense oligonucleotides injected into amniotic fluid led to healthier motor neurons, improved behavior and survival in mouse models of spinal muscular atrophy. @HopkinsMedicine @UCSFMedicine scim.ag/43kciJ4
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After many years of amazing work, Dr. Jeremy Sullivan's paper (@SumnerLab ) is finally out and TRPV4 expression in brainstem blood vessels made the cover! science.org/doi/10.1126/scit…
This week's new issue of #ScienceTranslationalMedicine has arrived! Epigenetic clues can predict the risk of kidney failure in patients with type 1 diabetes, an experimental antiviral neutralizes an array of coronaviruses in mice, and more. scim.ag/73c
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Congratulations to @CMM_JHU Anna Bagnell @abagnell_sci for winning the @JohnsHopkins Empower Your Pitch competition! Anna studies the role TRPV4 plays in regulating blood neural barriers in the @SumnerLab at @HopkinsMedicine.
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Via @MuscleAndNerve: Children diagnosed with spinal muscular atrophy as infants and treated with nusinersen achieved motor milestones previously unattainable for children with the disease: bit.ly/3Lk3j2v #NeuroTwitter @CHOP_Research @JinsyMd @SumnerLab @HopkinsMedicine
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It’s online today!! So excited to share 🤩 Feels unreal to see it official after all those years. Ilaria started the project 10y ago, Liza did the bulk of it for her PhD & I completed it all (added some ASO/therapeutics & perfected the looks of it 😉) sciencedirect.com/science/ar…
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When dreaming about TRP channels, dream BIGGER! Our new pre-print "Crosstalk between regulatory elements in the disordered TRPV4 N-terminus modulates lipid-dependent channel activity" is finally out! biorxiv.org/content/10.1101/…
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Congratulations to @HopkinsMedicine ‘s @SumnerLab !
We are pleased to announce the recipients of the ANA's 2021 scientific awards, to be presented during #ANA2021. 🎉 Congratulations to this year's winners! ow.ly/HNzj50FCz6Y
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After fantastic talks yesterday, including the breathtaking take on TRPV4 channelopathies by @SumnerLab, now a fascinating historic perspective and the connection to TRPA1 by @sejordt at the 20 years of TRPV4 conference! What will we talk about in another 20 years?!🤯 #ISCxTRPV4
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Spinraza (nusinersen) will be available to people with spinal muscular atrophy type 3 who are unable to walk. Patient organizations advocated the decision. Read more about it here: buff.ly/3uYzZo9
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The TRPV4 ion channel was first published in 2000 by our friend and long-time collaborator Wolfgang Liedtke. Please join us June 8-11, 2021 for a virtual conference to celebrate 20 years of progress on #TRPV4 by scientists around the world insidescientific.com/virtual… (Please RT!)
This paper has everything - the best protein (TRPV4!), disease mutants, mechanisms, cells, flies and even NMR! Exciting work by @SumnerLab on how TRPV4 neuropathy but not skeletal dysplasia mutants disrupt RhoA interaction & neurite extension! nature.com/articles/s41467-0…
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Sumner Lab retweeted
Given the current state of the pandemic and COVID-19 vaccination roll-out, Cure SMA will hold its 2021 #AnnualSMAConference virtually again this year. Although we wish we could see you in-person this year, we hope you can join us! 💜🧡 Learn more: 👇 curesma.org/annual-sma-confe…
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