👇 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
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
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
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
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
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 https://t.co/SvcnuA5dT7
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!