I am a woman, a mom, a scientist, and a researcher, and as such, find the complex processes that neurons use to defend themselves against threats simply fascinating. I feel privileged to spend my work day thinking about how these processes might be connected, and how these connections might fall apart in the case of disease. A few years ago, my lab started to apply our knowledge to the investigation of ALS, in particular how different motor neurons respond differently to stress. To our surprise, we stumbled upon new insights into C9ORF72 – a gene whose mutation is the major genetic cause of familial ALS. We are now trying to use our findings to rescue C9ORF72 in ALS neurons – an extremely challenging, but fascinating way of potentially treating one aspect of the disease.
I love my work, I love science, and I tell the world how our work might one day in the future help patients. What I do not tell is that I also hate ALS and how bizarre it is that I work on exactly the same disease that took away my mom – the woman who loved me, who was a scientist herself, who would have been so very proud of everything I am doing now, and who would have loved to meet her grandchild. Although now >10 years ago, I still remember those months, from the early symptoms, the diagnosis, the rapidly progressing paralysis, my last visits with her. Can I connect the two, working on ALS and loosing my mom to the same disease? No. Do I have to connect the two? No. But maybe I can tell every patient out there and their family who wonder what those researchers are doing that – I hear you, I see you. You are fighting the bravest fight there is. I do not have answers. I do not have solutions. But I am trying my best every single day to find out a little more, and in the evening, I hug my kid.
The love and hate of a devastating disease
