Dr. Kristen Holmes and Kerry Lannert repped the lab at this year's @varianteffects symposium hosted by the @broadinstitute. Using a surface-tethered display system, we can assay the impact of genetic variants in secreted coagulation proteins VWF and FVIII.
#VariantEffect24
At the University of Washington in the US, Dr Jill M. Johnsen is using the latest #DNA sequencing techniques to dig down into the changes to one gene that lead to #haemophilia B, examining the role of every amino acid within the protein it encodes.
https://t.co/NLcKMmtrQ6
At the University of Washington in the US, Dr Jill M. Johnsen is examining how #genetic mutations can lead to the bleeding disorder #haemophilia B. What could achieve in the fast-advancing field of #haematology?
https://t.co/NLcKMmtrQ6
In our latest collection of free #teacher#resources, we explore #haematology with Dr Jill M. Johnsen (@JohnsenLab) at the University of Washington (@UW) in the US.
https://t.co/NLcKMmtrQ6
If you’re at #ASH2023, stop by and say hello at the Sunday night poster session from 6-8pm. I’ll be presenting our cell surface-tethered VWF display system! Find me in the 300’s with the other cool kids.
The ⭐️ incredible Dr. @sortoutbleeding providing pearls on peripartum mgmt in VWD w a shout-out to @WynnPetersonMD.She recommends against DDAVP to increase VWF at delivery given concerns wrt fluid restriction - esp in a patient who may be bleeding! 👏 #ISTH2023
39% (!!!) of pediatric patients with heavy menstrual bleeding have an underlying bleeding disorder.
So important to test for this and involve your friendly local shematologist!
#ISTH2023
Nicholas Popp #ASHG22: Multiplexed assays allow us to identify functional effects of thousands of variants in parallel. Growth assays have been popular, but won't work for all genes. Secreted genes won't work in these assays and they represent ~10% of all genes in genome.
BBI’s Dr. Jill Johnsen will lead a new hemophilia initiative, tracing the roots of risk for immune complications starting from time in the womb.
https://t.co/yTRnrZ7W3W