Discover and read the best of Twitter Threads about #Fabry
Most recents (5)
1) Welcome to Part 1 of a new #accredited #tweetorial in our series of educational programs on #hypertrophic #cardiomyopathy #HCM. Previous programs, still available for 🆓CE/#CME, are at cardiometabolic-ce.com/category/hcm/.
Now you can earn another 1.5hr credit by following ALL of this 🧵!
Now you can earn another 1.5hr credit by following ALL of this 🧵!
2) Our expert author is Sergio Kaiser MD PhD FACC FESC 🇧🇷🇮🇱 @pabeda1, cardiologist 🫀, Professor 🎓 of #InternalMedicine, Rio de Janeiro State University. He brings the general cardiologist's perspective to our #HCM discussions. Read and learn!
#FOAMed #CardioTwitter
#FOAMed #CardioTwitter
3) This program is supported by an unrestricted educational grant from Bristol Myers Squibb. Statement of accreditation and faculty disclosures at cardiometabolic-ce.com/disclosures/. Credit for #physicians #nursepractitioners #physicianassociates #nurses #pharmacists from @academiccme.
1) Welcome to a new #accredited #tweetorial on #hypertrophic #cardiomyopathy #HCM. Our expert author is Ahmad Masri MD @MasriAhmadMD of @OHSUCardio where he leads the Hypertrophic Cardiomyopathy Ctr. See a previous program from him, on #Fabry disease, at cardiometabolic-ce.com/cardiorenal-fa….
2a) This program is intended for #healthcare providers and is supported by an educational grant from Bristol-Myers Squibb. Statement of accreditation and faculty disclosures at cardiometabolic-ce.com/disclosures/. FOLLOW US for the most timely expert education in #cardiometabolic care!
2b) #Physicians #Nurses #PhysicianAssociates #NursePractitioners #Pharmacists earn a full 1⃣ hour of 🆓CE/#CME credit from following this 🧵. For educational purposes, Twitter still works!! 😁
SM presenting yesterday at HC Wainwright made a couple references to #Fabry study which prompted this thead
- No steroids have been used.
- Best data he's had the privilege to report
investor.sangamo.com/events/event-d…
$SGMO
1/
- No steroids have been used.
- Best data he's had the privilege to report
investor.sangamo.com/events/event-d…
$SGMO
1/
Fabry disease = abnormal a-Gal enzyme activity leading to Gb-3 and lyso-GB3 accumulation. Prevalence data varies widely given multiple attempts to quantify the impact of under-diagnosis. Kidney and cardiac disease are LT impacts
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ERT is the SOC for patients with #Fabry. The LT follow up studies for patients on ERT show that it does not stop disease progression and imposes a high treatment burden.
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$SGMO status going into C22
Two synthetic gene transfer programs:
- HemA now run by $PFE P3. Hold for protocol amendment. Expect timing update for full analysis in next couple months.
- #Fabry owned program good data potential first/best in class
No further programs.
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Two synthetic gene transfer programs:
- HemA now run by $PFE P3. Hold for protocol amendment. Expect timing update for full analysis in next couple months.
- #Fabry owned program good data potential first/best in class
No further programs.
1/
$SGMO development focus leveraging ZF technology shows evolution from old four platforms to new integrated tech message. ZF tech facilitates both ex vivo and in vivo genomic medicines. Examples are CAR Tregs cell therapy and ZFP-TF CNS regulation.
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Cell therapy pipeline:
-Sickle cell collab with $SNY lead indication (see next)
-$GILD collab programs on hold. No update for a while but likely tied to durability issues seen at $ALLO $CRSP $DTIL
-Steadfast study is #POC for CAR Tregs with significant pipeline to follow
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-Sickle cell collab with $SNY lead indication (see next)
-$GILD collab programs on hold. No update for a while but likely tied to durability issues seen at $ALLO $CRSP $DTIL
-Steadfast study is #POC for CAR Tregs with significant pipeline to follow
3/
#WeekendLecture
#GeneticsAndStroke
#Genetics is involved in several #stroke related conditions, such as small vessel disease #SVD, aneurysms, dissections, cavernomas, and intracranial #hemorrhages
Check this 🧵!
Prepared by @J_Rosales_MD
Edited by @interneurona
#GeneticsAndStroke
#Genetics is involved in several #stroke related conditions, such as small vessel disease #SVD, aneurysms, dissections, cavernomas, and intracranial #hemorrhages
Check this 🧵!
Prepared by @J_Rosales_MD
Edited by @interneurona
#Weekendlecture
#Genetic & #SVD
🧬🧠
✅1,5% of cerebral #SVD are #monogenic disorders
✅AR, AD or X-linked
☝🏼Absence of family history doesn't rule out diagnosis because of
👉de novo mutation
👉reduced expression or
👉incomplete penetrance
✅ahajournals.org/doi/10.1161/ST…
#Genetic & #SVD
🧬🧠
✅1,5% of cerebral #SVD are #monogenic disorders
✅AR, AD or X-linked
☝🏼Absence of family history doesn't rule out diagnosis because of
👉de novo mutation
👉reduced expression or
👉incomplete penetrance
✅ahajournals.org/doi/10.1161/ST…
#Weekendlecture
#Genetic & #SVD
When to #suspect?🕵️♀️
✅early onset stroke without vascular RFs
✅systemic features and neuroimaging of an specific monogenic disorder
✅consanguinity
✅negative work up for other causes of SVD
👉ahajournals.org/doi/10.1161/ST…
#Genetic & #SVD
When to #suspect?🕵️♀️
✅early onset stroke without vascular RFs
✅systemic features and neuroimaging of an specific monogenic disorder
✅consanguinity
✅negative work up for other causes of SVD
👉ahajournals.org/doi/10.1161/ST…
