Mechanistically, I think the most interesting finding of our study is that nitric oxide deficiency in ASLD led to imbalance of claudins (downregulation of claudin-5 and upregulation of claudin-1). This is a phenomenon also observed during BBB leakage in chronic stroke.
The research that I conducted during my postdoc at @bcmgenetics is finally published! This study was partially funded by the grant that I received from the @UCDConsortium and dedicated to the memory of Cindy Lemons from the National Urea Cycle Disorder Foundations.
We discover that argininosuccinate lyase deficiency (ASLD) may cause blood-brain barrier breakdown, providing a novel mechanism on the pathogenesis of neurocognitive deficits in patients with ASLD (beyond hyperammonemia).
We're proud to announce the Phase 2 portion of the global RISE UP study in #sicklecelldisease met its primary endpoint of hemoglobin response. These results support proceeding with Phase 3. Read more about this exciting progression for patients here: https://t.co/YQjeLqntF2
We’re excited to announce the launch of our new Agios Medical Twitter account for U.S. HCPs! If you’re a healthcare provider based in the U.S., please follow along for updates on our latest hemolytic anemia research and resources. https://t.co/1VCdrZYINw
ASH has adopted the term "classical hematology," in place of what was formerly referred to as "benign" or "nonmalignant." Discoveries within #classicalheme have significantly advanced the field & continue to better the lives of those living with non-cancerous blood disorders.
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Rather enjoy attending the last day of #ASH22 when things are less busy/chaotic and I can focus less on work-related talks. But my first in-person ASH congress has been an awesome experience.
Had the honor of attending the very first conference specifically dedicated to #pyruvatekinasedeficiency today. Listening to rare disease patients’ stories always inspires me and reminds me why I love what I do. #60yearspkd
During last week’s @SCDAAorg event, we unveiled a music video created by Blaze and DeMitrious dedicated to their fellow #sicklecellwarriors who demonstrate incredible resilience and rise above the challenges of living with #sicklecelldisease. Watch here: https://t.co/IaKkoeOZLM
Today is #WorldSickleCellDay. I’m grateful for the opportunity to attend my first #FSCDR Symposium last weekend to not only learn more about sickle cell disease but also meet amazing Sickle Cell Warriors! It’s also nice to attend a conference in-person again!
We're proud to announce that data from the pivotal Phase 3 ACTIVATE study of PYRUKYND ® (mitapivat) were published on April 14, 2022 in the New England Journal of Medicine. Read more and see the link to the publication in the announcement below! https://t.co/jbalhQdrWH
After working virtually for almost a year, it feels nice that I finally got to see my teammates in-person this week in Cambridge, MA. #bestteamever#MedicalAffairs.
Today is Rare Disease Day! 🦓
It's time to Show Your Stripes! How are you getting involved? Why is this day important to you? Share you answer on social media using the hashtags #RareDiseaseDay and #ShowYourStripes.
Learn more at: https://t.co/p0g5CEy1W0
First disease-modifying therapy for hemolytic anemia in adults with Pyruvate Kinase Deficiency! Honored that I get to be part of the launch team! #RareDisease#pyruvatekinasedeficiency
We're so excited to share that the FDA approved our first #GeneticallyDefinedDisease medication – the first therapy for a serious, rare blood disorder. We have studied this medication for 7+ years in the clinic & are proud to deliver it to patients today! https://t.co/I1Be7oWwiT