Trikafta now FDA approved for kids with CF aged 2-5. Amazing.
Vertex Announces U.S. FDA Approval for TRIKAFTA® (elexacaftor/tezacaftor/ivacaftor and ivacaftor) in Children With Cystic Fibrosis Ages 2 Through 5 With Certain Mutations https://t.co/FzOBYyPigd
In an early-phase study involving 17 patients with highly refractory multiple myeloma, CAR T-cell therapy with specificity for a G protein–coupled receptor that is expressed on myeloma cells produced a response in 71% of the patients. https://t.co/P2N784dkHj
@charlesgenetica@JIMD_Editors@BIMDG It is astounding how many people assume mitochondrial disease = mtDNA, therefore = maternal inheritance. Every lecture or talk I give has a slide similar to Holger's - my aim is that if they only remember one thing, it's that most paediatric mitochondrial disease is mendelian
This patient had palpitations that were relieved by bowel movements and passing gas.
It is possible for the COLON to end up in the pericardium 🤯
#MedTwitter
Genetically modified HSCT is being considered for X-ALD (clinical trial) and proposed for other genetic leukodystrophies. This study is a creative approach to further enhance remyelination in other, non-Mendelian, demyelination diseases like MS. Really cool!
Interesting study:"many genes routinely tested within pediatric genetics have deleterious variants with intermediate penetrance that may cause lifelong sub-clinical phenotypes in the general adult population" https://t.co/YeXXPfxTOt