Human disease isn’t just a cell in a dish or a fly in a vial. This first became clear to me as an undergrad. I had the opportunity to intern at a perinatology clinic that dealt with high risk pregnancies. A large proportion of the cases they saw were due to genetic disease in the fetus or baby. I sat in on procedures and genetic counseling sessions. I saw firsthand what genetic disease does to a family. Pain, suffering and unending questions.
As basic scientists, we often forget this. We tell ourselves that we strive for knowledge and truth. This is true. But, our work has so much potential to provide answers and even transform lives. This is why I do science.
As a grad student I worked on Charcot Marie Tooth (CMT) disease, a severe peripheral neuropathy. This story began with a spontaneous mouse mutant, basic science. I cloned the gene and characterized the mouse. Based on this work, we thought it had a lot of similar neurodegenerative issues as patients with CMT. I screened a number of patients and found several families with mutations in the same gene. When this was reported back to the families, we received notes expressing relief that they hadn’t done something wrong to make their kids sick. Now, there is gene test and numerous other patients have been diagnosed. This is what basic science can do.
It’s important to remember the human face behind the disease. We recently began a project looking into the biology underlying NGLY1 deficiency. This is a disorder of deglycosylation and patients have developmental delay, movement disorders, and many other symptoms. I recently met the first identified patient with NGLY1 deficiency. This reminded me again, that NGLY1 deficiency is not a project. It’s a genetic disease with a human face and human suffering.
Not every experiment will lead to therapy. Not every experiment will improve humanity. But if one does, then we’ve succeeded. Behind all this biology is human disease. Behind the disease is a human face, human suffering. This is why I do science.