dremmye.bsky.social
British-Australian Immunologist, Rare Diseases Researcher at Monash Uni and patient advocate (AusPIPS), interested in genetics and its role in impairing immune function in #primaryimmunodeficiencies, towards improved diagnosis and treatment #Immunology
👤 Joined on 19 November 2024
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@dremmye1984.bsky.social@dremmye1984.bsky.social → @dremmye.bsky.socialSo happy to have worked with Dr. Elie Haddad to help cure CGD using prime editing technology. An extraordinary moment for precision medicine and for children with rare immune disorders. #CGD #PrimeEditing #PrecisionMedicine
Show PostIn a new study from Tan, Kergaravat, @petterbrodin.bsky.social et al., longitudinal profiling of 136 newborns shows thymic output peaks at 3–4 mo, correlating with plasma RANKL, lymphotoxin-α, and the TCRD variant rs2204985. rupress.org/jhi/article/...
Show PostNew hope for these patients: Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency rupress.org/jhi/article/...
Show Post🎙️The final countdown to #RareDiseaseDay is on and we’re back with our 8th episode of Rare on Air Stories! 💜 Meet Ren who lives with #CongenitalPanhypopituitarism, a story of resilience and hope in the face of lifelong hormone challenges. 🎧 Listen now: https://www.eurordis.org/rare-on-air/
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