Mitochondrial Diagnostic Technician
- Email: email@example.com
- Telephone: +44 (0) 191 208 8877
BackgroundI am a mitochondrial diagnostic technician within the NCG Mitochondrial Diagnostic Service. This role involves providing technical support to the molecular team, who work towards giving a molecular diagnosis to patients clinically affected with mitochondrial disorders.
I work alongside clinical scientists and other molecular technicians, as well as scientists in the other sections of the diagnostic service, biochemistry and histochemistry.
I was motivated to work in a diagnostic lab, particularly a lab dealing with patients affected with mitochondrial diseases because of the importance of finding and providing an answer to families who are affected with debilitating mitochondrial disorders
- Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M. A novel m.7539C > T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease. Neuromuscular Disorders 2015, 25(1), 81-84.
- Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HAL, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy. European Journal of Human Genetics 2015, 23(12), 1735-1738.
- Miwa S, Jow H, Baty K, Johnson A, Czapiewski R, Saretzki G, Treumann A, von Zglinicki T. Low abundance of the matrix arm of complex I in mitochondria predicts longevity in mice. Nature Communications 2014, 5, 3837.
- Armstrong MC, Sestak S, Ali AA, Sagini HAM, Brown M, Baty K, Treumann A, Schroder M. Bypass of Activation Loop Phosphorylation by Aspartate 836 in Activation of the Endoribonuclease Activity of Ire1. Molecular and Cellular Biology 2017, 37(16), e00655-16.