Rita Horvath
@ritahorvath.bsky.social
Professor of Neurogenetics at the Department of Clinical Neurosciences, University of Cambridge, UK
www.gimjournal.org/article/S109... I am very proud of this new paper! Congratulations to Thiloka and the team of young researchers! 👍
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...
gimjournal.org
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...
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
cam.ac.uk
@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
