👇 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

ALT Graphical Abstract contains the following elements: Top text: Australian Genomic Mitochondrial Flagship text flowchart reads 140 individuals with suspected mitochondrial disease --> GS/ES+mtDNA sequencing --> Diagnostic yield Left hand circle beside clip art of an infant and text reading "Pediatric onset" reads 71% with an arrow pointing down at mtDNA next to an indicator reading 22%, and nuclear DNA next to an indicator reading 78% Right hand circle beside clip art of an adult and text reading "Adult onset" reads 31% with an arrow pointing down at mtDNA next to an indicator reading 29%, and nuclear DNA next to an indicator reading 71%
Rocio Rius retweeted
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
Rocio Rius retweeted
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 ahajournals.org/doi/abs/10.1… /1
Rocio Rius retweeted
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
Rocio Rius retweeted
💚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…
Rocio Rius retweeted
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
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-…
Rocio Rius retweeted
Is biparental mitochondrial DNA (mtDNA) inheritance really common? #Gcchat go.nature.com/2ISIqvx
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!
Rocio Rius retweeted
Por favor ayuda! Lo arrebataron de las manos a una amiga! @PrrosPerdidosMX @PerroContentoMx @SeguridadDF @juli_iluj
Rocio Rius retweeted
Encontramos perro golden perdido en las Lomas @Vecinodeteca @RUNBO_DF @YoVivoenBosques @InstitutoPerro porfa rt – at Huixquilucan, México
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
RT @WHO: Any attack against health workers, health services, health facilities anywhere is completely unacceptable #ProtectHealthWorkers
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














