Latest News
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LOS ANGELES – 54 honorees representing 23 states participated in the 2022 Donate Life Rose Parade® float, “Courage to Hope.” With ages ranging from 16 to 71 years old for riders and walkers, and from 9 days old, to 55 years old for floragraph honorees, these participants and their families... -
As we enter what I consider to be the most wonderful time of the year, I reflect on why this season of giving is so magical. Does it really have anything to do with the gifts under the tree, the parties, or the Christmas lights? Many of us fill our December...
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LUND, Sweden – Immunovia AB (publ.) announced today that the Company’s President and Chief Executive Officer, Patrik Dahlen, has informed the Board of Directors of his intention to step down, for personal reasons. The search for a new CEO will start immediately. Although Patrik Dahlen will remain with the company for another six months...
Videos
Rare disease spotlight
Results from #CACNA1A #naturalhistory study.
Great work by @WendyKChung and others as we need such studies in order to repare for future #clinicaltrial.
#genetics #epilepsy
@CheckOrphan
@RareEpilepsy @IlaeWeb @Epilepsy_Center https://twitter.com/cacna1a/status/1540671056696020992
@WendyKChung published the first set of data from our #CACNA1A Natural History Study. Severity score was significantly higher for predicted GoF variants, variants in the S5/S6 helices. https://onlinelibrary.wiley.com/doi/10.1111/cge.14180
Great article highlighting benefits of universal #NewbornScreening
“I urge other states & territories to screen newborns for both these genetic disorders as we are in NSW to give babies with SMA or SCID the best chance of survival”
Health Min Brad Hazzard
https://www.smh.com.au/national/nsw/life-saving-tests-for-newborns-after-sydney-study-makes-fatal-condition-treatable-20220624-p5awbr.html
#PrecisionMedicine should exist for all epilepsies, rare & common. Better treatments and diagnostics. One step at a time📈 to benefit our patients. Latest improvement #FIRES syndrome #epilepsy #precisioncare #precisiondiagnostics.
@TorieRobinson10 @CheckOrphan @Epilepsy_Center https://twitter.com/AledoNeuro/status/1540637714277695488
Our new work is out‼️
#FIRES is a devastating #epilepsy syndrome without evidence for effective drugs during chronic phase👇
In this case-series we show how anti-IL (#anakinra/#tocilizumab) might be useful several years after acute FIRES
➡️ https://authors.elsevier.com/a/1fIkO3mqOkJ2Ox
🧶thread👇 https://twitter.com/allanbayat/status/1540434409240797187