This Messenger issue features another interview with an expert on a Covid-19 related topic. The interview is with Dr. Jasmin Barman, who was involved in setting up the SARS-CoV-2 PCR diagnostics at the Triemli Hospital in Zurich. She and her colleagues are associate members of the NCCR and long-standing collaborators of ours on researching new treatment options for the rare genetic disease Erythropoietic Protoporphyria (EPP).
EPP causes patients to develop extreme pain after exposure to light, which is nicely explained on any number of internet sites. Through which, Jasmin, an EPP patient herself, discovered the cause of her suffering. However, internet pages and scholarly readings in my experience cannot provide a complete picture of how such diseases impact patients’ lives on numerous levels. For instance, I was once stunned when Jasmin explained to me her discomfort when travelling on the new generation of Zurich public buses with their intense LEDs as interior lighting. Hearing about these daily experiences gives you a different perspective and added urgency when researching a given rare disease.
The “good” news, in the context of the several thousands of rare diseases, is that most of them have a genetic cause and thereby, an associated target for the development of new therapeutics. Furthermore, as novel technologies such as RNA-based drugs come on-line, they are often able to bring new treatment approaches with higher rates of clinical success than for conventional drugs. Our NCCR is a strong driver of such innovative research.
Jonathan Hall - KTT Delegate NCCR RNA & Disease