Rita Horvath
@ritahorvath.bsky.social
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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! 👍
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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...
https://www.gimjournal.org/article/S1098-3600(25)00267-9/fulltext
4 days ago
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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...
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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
https://www.cam.ac.uk/jobs/clinical-research-associate-fixed-term-ze45253
2 months ago
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reposted by
Rita Horvath
American Society of Human Genetics (ASHG)
7 months ago
@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
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www.linkedin.com/posts/lifear...
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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…
https://www.linkedin.com/posts/lifearc_rare-disease-research-faces-unique-challenges-activity-7290292607086133248-MsUQ?utm_source=share&utm_medium=member_desktop
10 months ago
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