Discover and read the best of Twitter Threads about #dyskeratosiscongenita

Most recents (2)

@SharonSavageMD presenting on #DyskeratosisCongenita #DC update. Starting a pt presentation with a de novo TINF2 variant. #ASH22 1/n
@SharonSavageMD She mentions her GI bleeding (as well as other findings) -- something I have seen in #DC. What we know - females do better than male (due to X-linked disease) #ASH22 2/n
@SharonSavageMD Squamous cell carcinoma and AML and MDS rates are high as we know in all these bone marrow failures -- and transplant accelerates this. #ASH22 3/n
Read 6 tweets
Telomere length elongation ex-vivo in a patient with #dyskeratosiscongenita? #DC Presentation by Dr. Kasiana Myers #ASH22 1/n
Utilizing ZSCAN4 - a protein that enhances genome stability and regulates telomere elongation in EXG-001 -- a non-integrating temperature-sensitive non-transmissible Sendai virus vector. #ASH22 @KMyersBMT 2/n
@KMyersBMT ZSCAN4 is transiently (but critically) expressed during meiosis and embryonic stem cells. EXG-34217 is the non temp sensitive product we are talking about here. Hope to enroll 12 subjects! No chemo or radiation, an autologous infusion. #teamtelomere #ASH22 3/n
Read 7 tweets

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