Kathryn J. Swoboda

Neurologist, Geneticist, Neurophysiologist on break. Views expressed are my own.

[Ben Kleinstiver @BKleinstiver]

Thanks for featuring our work on base editing to treat SMA - credit to @Christiano_RRA @leillani_ha @KotharyLab @kswobo @shengdarqtsai et al; and congrats to @MandanaArbab @davidrliu on their study, too. Cc' @CGM_MGH @MGH_RI @MassGeneralNews @harvardmed 🧬

[Kathryn J. Swoboda @kswobo]

Super exciting work- congrats to all!

[David R. Liu @davidrliu]

Today we report in @NatureMedicine a study led by Christine & Jonathan Seidman’s lab in which we used adenine base editing in vivo to correct a common mutation that causes hypertrophic cardiomyopathy (HCM), a disease that occurs in ~1 in 500 people (1/8)

[Kathryn J. Swoboda @kswobo]

Brilliant much needed study to understand where ASOs delivered into CSF go and how they impact differing cell types! Well worth a read.

[Eric Vallabh Minikel @cureffi]

How broad is knockdown across the brain? In 3 mouse brain regions, knockdown in essentially every cell type, though again sometimes with substantial differences in degree. The weakest knockdown is often in cells of the vasculature.

[Kathryn J. Swoboda @kswobo]

Sadly i agree- 100%.

[Kathryn J. Swoboda @kswobo]

Valuable contribution towards a better understanding of ASO delivery to muscle- kudos to the team for tackling this complex dose ranging study

[Dave Arnold @DaveArnoldLab]

Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial - The Lancet Neurology https://t.co/BIpr7qC98q

[Kathryn J. Swoboda @kswobo]

For anyone who can help support our SMA families in Turkiye

[Kathryn J. Swoboda @kswobo]

We are so sorry to see so much suffering- heartbreaking. I see SMAEurope is trying to help support their sister organization in Turkiye- i will share link for those interested

[Ayça Şahin @MsGeneticist]

To the friends asking how I am...

I live in Istanbul and Istanbul is far away from the area. I am safe, my family is safe, we are safe but we feel so sad.
Unfortunately, many people died, multiple cities are affected. People try to survive outside, it is cold.

[Vahab Soleimani @vahabsoleimani]

Thrilled to share our paper just out @NatureComms. The expression of nearly half of all age-altered genes in muscle stem cells (MuSCs) from aged mice can be restored (transcriptionally rejuvenated) by their in vivo exposure to a young niche environment. https://t.co/ZfnP8TtE9I

[News from Science @NewsfromScience]

In honor of #WorldWetlandsDay, read more about how restoring wetlands near pollution sources could naturally aid water clean-up efforts. ⬇️ https://t.co/gcadFpNhso

[Kathryn J. Swoboda @kswobo]

Pretty exciting work towards effective therapies for both tyrosinemia and PKU. Can’t wait to hear more….

[Madelynn Whittaker @mn_whittaker]

I had a wonderful time presenting some of our group’s efforts towards therapeutic base editing at Deaminet 2023! Super nice to connect with new and returning attendees 😃 🌴

[Madelynn Whittaker @mn_whittaker]

I had a wonderful time presenting some of our group’s efforts towards therapeutic base editing at Deaminet 2023! Super nice to connect with new and returning attendees 😃 🌴

[Kathryn J. Swoboda @kswobo]

What an amazing story! So much more to come…

[Gene Investing w/Anthony 🧬 @GeneInvesting]

Ground-breaking gene-editing treatment leaves patient feeling like they have 'a new body'

$NTLA
#CRISPR
$XBI
#GeneEditing

“Rose said the eight months since her infusion had been incredible.”
https://t.co/cS832VF8kY

[Kathryn J. Swoboda @kswobo]

Ah yes- it has now been almost a year for me. I know the feeling!

[Elizabeth (Liz) Sonntag, MD @mdlizs]

I have made the incredibly difficult decision to take 3 months away from work for my own health.

Unfortunately, being a doctor does not always allow the time and space for being human.

#MedTwitter

[Kathryn J. Swoboda @kswobo]

Huge congrats to the Kleinstiver lab for this honor

[Ben Kleinstiver @BKleinstiver]

Honored to have our work featured here (amongst many other exciting innovations!) to improve access to the genome for precision edits. @russelltwalton @RachelSilvers11 @katieachristie and others
🙏🧬🔧

Seven technologies to watch in 2023 https://t.co/x4nbONnFRF

[Kathryn J. Swoboda @kswobo]

@MsGeneticist @BKleinstiver Absolutely

[Kathryn J. Swoboda @kswobo]

Check out this tweetorial from @BKleinstiver on a collaborative project poised to expand the treatment horizon using base editors…. for SMA and other rare genetic diseases!

[Ben Kleinstiver @BKleinstiver]

1.Excited to share our 1⃣ @biorxivpreprint of 23 on the optimization of base editing as a genetic treatment for spinal muscular atrophy (#SMA). We demonstrate the versatility, efficacy, and safety of #baseeditors in SMA cells and in vivo in SMA mice. https://t.co/pS7RIXAQ9K

[Kathryn J. Swoboda @kswobo]

@BKleinstiver @Christiano_RRA @leillani_ha @KotharyLab @Reallyviral @shengdarqtsai Truly an honor to collaborate on this project with such an amazing group of scientists

[Ben Kleinstiver @BKleinstiver]

1.Excited to share our 1⃣ @biorxivpreprint of 23 on the optimization of base editing as a genetic treatment for spinal muscular atrophy (#SMA). We demonstrate the versatility, efficacy, and safety of #baseeditors in SMA cells and in vivo in SMA mice. https://t.co/pS7RIXAQ9K

[Kathryn J. Swoboda @kswobo]

Very important work by the Burnett and Kothary labs- the role that inflammation plays in the acute phase of denervation in SMA patients has been too long underappreciated…and likely part of the benefit in infants who receive zolgensma has to do with corticosteroid regime

[BurnettLab @BurnettLabUSU]

Excited to share our recent collaborative effort led by former graduate student @GKhayrullina and a star-studded team including @KotharyLab and @modeguise. Comments welcomed!
Survival motor neuron protein deficiency alters microglia reactivity https://t.co/yJWqTc23d4

[Kathryn J. Swoboda @kswobo]

Time to up our game for SMA babies most likely to have denervation already at birth - we have an approved med that is orally bioavailable and could be offered to women in the third trimester for SMN2 <3 at risk fetuses- where is the clinical trial @Roche Time to step up

[UCSF Pediatrics @UCSFPediatrics]

For the first time ever, doctors have successfully treated a fetus with infant-onset pompe disease using a protocol developed at @UCSF by Dr. @MackenzieTippi and team. Ayla, now 16 months old, is thriving, giving hope for future prenatal treatments. https://t.co/zE4tO3EKej