José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
A Phase 1/2 trial of a potential Pearson syndrome treatment called Mitochondrial Augmentation Therapy (MAT) has dosed its first pediatric patient. This study of Minovia Therapeutics’s MAT is the ... Read more
Treatment with cysteamine bitartrate, already used in patients with a rare kidney disorder, could be effective in people with mitochondrial disease, according to preclinical results. The study, “Pre-clinical evaluation ... Read more
Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been ... Read more
Restoring a missing transfer RNA (tRNA) modification improved protein production and stability in mitochondria — the cell’s power plants — in a patient with myoclonic epilepsy with ragged red fibers ... Read more
Khondrion’s mitochondrial disease treatment candidate KH176 has potential to be effective in a broad range of disorders, a new study reports. The research, “KH176 Safeguards Mitochondrial Diseased Cells from ... Read more
People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports. The study reporting ... Read more
The antioxidants vitamin E and N-acetylcysteine (NAC) prolonged survival and protected against brain damage in models of mitochondrial disease, a study shows. The compounds will now be tested in clinical ... Read more