Rocio Rius
@rociorius
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Joined April 2009
👇 our work improving the diagnosis of mitochondrial diseases, with @Mitochondriac_.Using🩸as 1st step the Dx yield was better in kids,in many cases prevented invasive testing. Huge thanks to the families and to @thorburn_mito & John Christodoulou for leading this national effort
How do YOU diagnose #mitochondrial disorders? The Australian Genomics Mitochondrial flagship explores genome/exome-first approach in 140 children and adults with suspected mitochondrial disorders https://t.co/JnprWIRmkq
@Mitochondriac_ @rociorius @thorburn_mito
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Our review article on sequencing & characterising short tandem repeats (STRs) is out in @NatureRevGenet! We delve into short read & long read STR genotyping tools and applications in rare disease & population genetics🧬 https://t.co/nHFomYSxLQ
@GenTechGp @hdashnow @dgmacarthur
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FINALLY able to share with you our latest! You know those papers that make you lose the will to live but also feel so damned proud? 🥲 Well this is mine, and i’m so excited to finally share it. Let me tell you about desmoplakin! @circ_gen #circgen
https://t.co/BJEvdHw32I /1
ahajournals.org
Background: Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely...
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MCRI congratulates the @AuSenate for its historic conscience vote in favour ‘Maeve’s Law’ to allow couples to access #mitochondrial donation to greatly ⬆️ their chance of having a healthy #child unaffected by #mitochondrialdisease. @thorburn_mito Read more: https://t.co/URolzTvdd2
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💚What an amazig @MitoAware World Mitochondrial Disease Week! 🙏Now let's watch this video showing researchers and clinicians sharing their vision of hope for the future.🌏 #wmdw #mitochondrialdisease #mito #mitoawarenessweek #mitoawareness #lightupformito
https://t.co/1CJgj4mor8
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Woo! My cells made it into this clip highlighting John, one of Mitos brilliant researchers @MCRI_for_kids! This Sunday we are walking a bloody long way (35km) to raise money for the life saving research we do. COVID can’t slow us down, Noah needs us! @AusMito @bloodylongwalk
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Inspiring to see the resilience & altruism of Liz & Luke who lost son Lewis to mito disease. Very proud of this work led by @ae_frazier & @mitochondriac_ showing ATAD3 locus is the most common cause of lethal infantile mito disease
Liz & Luke share a personal story of their son Lewis, who died of #mitochondrial #heartdisease at 8 days-old. Lewis' legacy however means researchers like @mitochondriac_ & @ae_frazier can reassure families this awful outcome is unlikely to happen again. https://t.co/xkzWrbwDBz
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Diagnostic breakthrough! Congratulations Dr Ann Frazier & Dr Alison Compton @Mitochondriac_ and team. De novo ATAD3 duplications that lead to mitochondrial disease are easy to miss, amazing work showing the power of re-examining genomic data
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Is biparental mitochondrial DNA (mtDNA) inheritance really common? #Gcchat
https://t.co/vJwmZh7nOr
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Necesitamos #donadores en el hospital ABC para la señora Gloria Burgos. Por favor, quienes estén en posibilidad de donar, avísenme para pasarles los requisitos. Gracias!
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Por favor ayuda! Lo arrebataron de las manos a una amiga! @PrrosPerdidosMX @PerroContentoMx @SeguridadDF @juli_iluj
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Encontramos perro golden perdido en las Lomas @Vecinodeteca @RUNBO_DF @YoVivoenBosques @InstitutoPerro porfa rt http://t.co/C9pxIpQoKP
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RT @abi_mt: Necesitamos donadores de sangre, para María Gloria Burgos en el banco del hospital ABC. 2 horas de ayuno y pesar + de 50 kg. Grx
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RT @WHO: Any attack against health workers, health services, health facilities anywhere is completely unacceptable #ProtectHealthWorkers
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RT @SSalud_mx: "La salud humana es un reflejo de la salud de la tierra." Heráclito de Efeso
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Fumar quita por lo menos 10 años de vida a las mujeres, deja de fumar antes de los 30 para disminuir este riesgo. http://t.co/aLGhejHV
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