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 bit.ly/3Uvo5AW @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🧬 go.nature.com/48pWZix @GenTechGp @hdashnow @dgmacarthur
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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:ow.ly/7M7e50IwJy1
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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 vimeo.com/manage/videos/6103…
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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 – at Melbourne, Victoria
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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 cell.com/med/fulltext/S2666-…
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Professor David Thorburn explains more about this work 👏🏻
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Is biparental mitochondrial DNA (mtDNA) inheritance really common? #Gcchat go.nature.com/2ISIqvx
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#CDMX URGE #sangre c/tipo para Gloria Burgos en el Centro Médico ABC Observatorio. Info: @abi_mt / 5539409000 RT
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Rocio Rius retweeted
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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#DF URGE #Sangre O+ Amalia Abbud Ochoa, Hopital ABC Santa Fe Info @paurius
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Rocio Rius retweeted
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 – at Huixquilucan, México
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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
¿Alguien tiene un lugar para la carrera de nike?
RT @SSalud_mx: "La salud humana es un reflejo de la salud de la tierra." Heráclito de Efeso
Fumar quita por lo menos 10 años de vida a las mujeres, deja de fumar antes de los 30 para disminuir este riesgo. thelancet.com/journals/lance…
RT @UN: Monday is Global Handwashing Day because it is the most cost-effective way to prevent diseases: j.mp/V04hhq #Iwashmyhands