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Rare disease spotlight


This has great implications for treatment as perampenal is a selective blocker of AMPAR recepters and can be used in patients suffering from GoF variants. #genetics #epilepsy #PrecisionMedicine
@epilepsy_scot @EpiCARE_ERN @eurordis @CheckOrphan @rarediseaseuk @eurordis

Next months genomics café on 1 February will feature a talk by us on Rare Disease Day 2022 and some other relaxed talks with a variety of topics such as how genetics can and should shape drama!
Book now – @WalesGenePark

#Myeloma is a rare, incurable disease of the bone marrow and accounts for approximately 1% of cancers.
Click on the link to watch the video that explains what myeloma is, how it is diagnosed, and its symptoms and treatments:

#thinkmyeloma #thinkALamy

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