Rita Horvath
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ritahorvath.bsky.social
Rita Horvath
@ritahorvath.bsky.social
190 followers 120 following 3 posts
Professor of Neurogenetics at the Department of Clinical Neurosciences, University of Cambridge, UK
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ritahorvath.bsky.social
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...
www.gimjournal.org
November 22, 2025 at 8:47 AM
ritahorvath.bsky.social
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
www.cam.ac.uk
September 26, 2025 at 3:15 PM
Reposted by Rita Horvath
geneticssociety.bsky.social
@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
May 7, 2025 at 7:57 PM
ritahorvath.bsky.social
www.linkedin.com/posts/lifear...
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
January 29, 2025 at 1:00 PM