Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants Primary mitochondrial diseases (PMD) arise from variants in the mitochondrial or nuclear genomes. Phenotype-based recognition of specific PMD genotypes remains difficult, prolonging the diagnostic ody...

www.gimjournal.org/article/S109...
I am very proud of this new paper! Congratulations to Thiloka and the team of young researchers! 👍

Clinical Research Associate (Fixed Term) This is a unique opportunity to carry out a period of clinical postdoctoral research focused on developing and validating new treatments and biomarkers for mitochondrial disorders, as part of a new

We are looking for an enthusiastic clinical postdoctoral fellow to do translational research in mitochondrial diseases in our LifeArc Centre! www.cam.ac.uk/jobs/clinica...

@ajhgnews.bsky.social latest article presents work from the Solve-RD Consortium that shows how integrated mtDNA analyses improve rare disease diagnostics, even when mitochondrial disorders are not suspected: www.cell.com/ajhg/fulltex... #ASHG @ritahorvath.bsky.social #GeneticsDiscoveries

LifeArc on LinkedIn: Rare disease research faces unique challenges including lack of… Rare disease research faces unique challenges including lack of investment, small patient populations, fragmented research and challenging routes to…

www.linkedin.com/posts/lifear...