Recipient had early and delayed cardiotoxicity after #AAV gene therapy. Clinical biopsy allowed us to characterize the molecular efficacy in the heart in humans for the first time. @chopresearch.bsky.social

NEJM.org@nejm.org · 2mo ago

In a patient with Duchenne muscular dystrophy, cardiotoxic effects developed after treatment with delandistrogene moxeparvovec. Microdystrophin levels in the heart and skeletal muscle were less than 1% of normal dystrophin levels. Full case details: https://nej.md/4b67kEI

Instead of using his well-deserved #MakeAWish for himself, this teenager with a critical illness chose to use it to support unhoused children in #Philadelphia. 👇 Learn more about his story and how you can support this effort.

Interested in clinical #aav #genetherapy for #hemophilia or other genetic disorders. 1 day everything you need to know symposium at @chopresearch.bsky.social

American Society of Gene + Cell Therapy@asgct.bsky.social · 3mo ago

While AAV and LNPs continue to revolutionize the field, translating these powerful delivery platforms into safe, predictable, and scalable clinical therapies presents unique challenges. We're partnering with @childrensphila.bsky.social for this comprehensive, one-day event: https://bit.ly/4uK4PPz

Lots of nuances in this case that very much limits generalizability to all AAV gene therapy, but also highlights importance of vector design and long term follow up. Boy’s brain tumor tied to gene therapy | Science | AAAS www.science.org/content/arti...

Boy’s brain tumor tied to gene therapy

Researchers report first cancer caused by virus widely used to deliver genes, but say risk is low

science.org

Long term efficacy and safety after AAV gene therapy for #hemophilia B with Padua with lowest vector dose: www.sciencedirect.com/science/arti... Commentary: ashpublications.org/bloodadvance...

Safety, efficacy, and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B

Fidanacogene elaparvovec is a single-dose gene therapy designed to express the high-activity factor IX (FIX) variant FIX-R338L. Participants (N = 15) …

sciencedirect.com

First case of AAV associated oncogenesis at #ASGCT and now available at NEJM. Very important, this is an extremely rare and an anticipated event that does NOT change the overall long term safety of AAV gene therapy. www.nejm.org/doi/full/10....

The Lawrence Lab website (lawrence-lab.org) is live and we are hiring for our launch in Jan 2025! We combine high resolution structure 🔬 and cell biology 🧪🧫 approaches to define mechanisms of stress response signaling in health and disease. Live postings below--Please RT and send to recent grads!

NIH funding powers discoveries that improve outcomes for patients with blood disorders. ASH calls on Congress to act before the January 30 deadline and secure robust funding for NIH in the FY26 Labor-HHS bill. https://ow.ly/g01w50XWV6v #ResearchSavesLives #HemeSky #Fight4Hematology

I’m asking you to join me in supporting the Williams Syndrome Association this Giving Tuesday. Every gift strengthens our ability to support families like ours navigating the challenges and joys of Williams syndrome. Donate @ GiveWSA.org or by texting GIVEWSA to 71777

#genetherapy for #hemophilia can be life changing. Proud to offer this transformative treatment at @childrensphila.bsky.social Gene therapy changed the life of a South Jersey man with hemophilia | PhillyVoice www.phillyvoice.com/gene-therapy...

Receiving gene therapy for hemophilia changed this South Jersey man's life

The novel treatment, partly developed by CHOP, eliminates the need for regular infusions while preventing the life-threatening bleeds caused by the condition.

phillyvoice.com

I’m honored to be speaking at the 14th WFH Global Forum in Montreal, Nov 13–14, 2025! 🌍 Join us for global insights on #BleedingDisorders care—covering #GeneTherapy, #VWD, safety, and more—all through the lens of equitable access. Learn more 👉 wfh.org/global-forum/

WFH 2025 Global Forum

QUICK LINKS About the Global Forum Governmental Welcome Agenda Registration information Committee & Speakers Venue Travel Global Forum News Sponsors Advances and access to safe treatment products for ...

wfh.org

I don’t even know where to start. Trump administration blocks NIH from awarding any research grants and contracts www.statnews.com/2025/07/29/t... via @statnews.com

Trump administration blocks NIH from awarding any research grants and contracts

The order applies to the entirety of new and, possibly, ongoing research grant dollars that go to universities and academic medical centers.

statnews.com

As #hemophilia B therapeutics become more sophisticated, there is an ⬆️ need to better understand genotype–phenotype relationships. Our in vitro studies are consistent with recent in silica approaches: www.sciencedirect.com/science/arti...

“An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B”: comment from Lee et al.

sciencedirect.com

We have the best hematologists at @chopresearch.bsky.social #ISTH2025 @hilarywhitworth.bsky.social

Impaired fibrinolysis in APS, provides mechanism for elevated rate of CTEPH in APS. #ISTH2025

Brilliant visualization of extravascular FIX and very interesting (and surprising) differences in specific activity of extravascular FIX and FX in different tissues. 🤯 #ISTH2025 #hemesky

😳 Thrilled we finally have a apixaban pediatric FDA approval to implement these changes.

Saskia Middeldorp@middeldorps.bsky.social · last yr.

This is what we were waiting for. A direct comparison between apixaban and rivaroxaban for the treatment of acute VTE. Apixaban reduces bleeding risk in the first 3 months by >50%! Practice changing investigator-initiated RCT. #ISTH2025

Potential emerging signal difference in ADAs in next-generation FVIII(a)-mimetics. 0/61 for Mim8 but 2/30 for NXT007. Surveillance may not be the same. #ISTH2025 #hemophilia #hemesky

#Hemophilia A patient treated with Hympavzi developed spontaneous DVT 3 years into treatment. Factor V Leiden heterozygous and sedentary lifestyle identified as risk factor. #ISTH2025

Pediatric #thrombosis guidelines, guidance, and clinical trials need to distinguish between older and younger children. #ISTH2025 #hemesky

Sabatino from @chopresearch.bsky.social giving a comprehensive overview of genotoxicity after AAV #genetherapy.

Rate of immunosuppression after #genetherapy for #hemophilia B with #Hemgenix in the real-world seems higher than the ~20% rate reported in clinical trial. Though small numbers here, also consistent with anecdotal results. We will need more rigorous real-world data. #ISTH2025 #hemesky

Compelling evidence presented at #isth2025 by Sebastian Leyes Porello from @samelsonjones.bsky.social’s group showing mim8 can enhance activity in hemophilia B variants in vitro, above enhancement this group saw with emicizumab. Curious about in vivo data teased during the Q&A 👀 #hemesky @isth.org

Nuanced points about the use the term “Cure” when discussing #genetherapy for #hemophilia at #ISTH2025. I agree about avoiding “cure” in clinical setting but really liked that this might be different in discussions about Allocations or Research Funding.

IMO biggest update at Guideline presentation at #ISTH2025 is this recommendation for primary #VTE prophylaxis in children receiving long-term TPN. I wish there was better GUIDANCE on intensity and type of anticoagulation for this recommendation.

Can't wait for #ISTH2025 to start! Our group from @chopresearch.bsky.social is presenting the first abstract and the last, and a few in between, all about #hemophilia B. #Hemesky

Looking forward to #ISTH2025 and especially this session with Dom. #hemophila #genetherapy

International Society on Thrombosis and Haemostasis@isth.org · last yr.

[Supported Post] Join CSL Behring on June 22nd at 1:45pm for an insightful review of the value of Factor IX replacement in hemophilia B management. #ISTH2025 medicalaffairs.cslbehring.com/diseases-and...

I discuss our #asgct2025 abstract highlighting our multidisciplinary team approach to care for #genetherapy recipients. Stay tuned, lots more to come. www.cgtlive.com/view/samelso...

Ben Samelson-Jones, MD, PhD, on Conservative Management Following Treatment With DMD Gene Therapy Elevidys

The associate director of clinical in vivo gene therapy at Children’s Hospital of Philadelphia discussed a case he presented at the American Society of Gene and Cell Therapy’s 2025 meeting.

cgtlive.com

Nice article about ongoing work to bring #genetherapy to pet dogs with #hemophilia. Includes the importance of the research colonies in developing new therapies, both for humans and 🐶. Cute pictures! Veterinarian aims to bring hemophilia treatment to pet dogs - News news.vin.com/default.aspx...

Veterinarian aims to bring hemophilia treatment to pet dogs

Effort to fund new gene therapy study spotlights rare disease with elusive remedy

news.vin.com

#williams syndrome is a rare genetic disorder with a fascinating but challenging neurocognitive profile. www.bbc.com/future/artic...

Williams Syndrome: The people who are too friendly

People with Williams Syndrome treat strangers as their new best friends. Now the condition is revealing clues to our evolutionary past – and what makes us human.

bbc.com