Research Assistant - Drug Discovery in Friedreich's Ataxia
Prior to my current work, I finished my Master's degree in Toxicology in Karolinska Institutet where I was working with overcoming drug resistance in cancer cells. My Bachelor's degree in nutritional sciences was done in Stockholm University, with my thesis project in determining the cytotoxicity of oxygenated poly-aromatic hydrocarbons.
Friedreich's ataxia is a rare disease which is inherited in an autosomal recessive manner. Mutations in frataxin, a mitochondrial protein believed to be involved in iron regulation, has been found to be sole responsible for the disease development. The estimated carrier frequency is around 1% in most populations, where 1 in 50000 may develop the disease. The clinical manifestations usually appear in early adolescence, targeting the nervous system and leading to the patient being wheelchair bound. No effective treatment has been found as of today, and a disease-modifying drug is crucial for people affected by Friedreich's ataxia.
The project in drug discovery for Friedreich's ataxia is a collaboration between the pharmaceutical company Pfizer, the patient organisation Ataxia UK, and the academic institutions in UCL, Imperial and Oxford. Together we hope to develop more effective treatments for the hundreds of thousands directly affected by Friedreich's ataxia.