Artist Sandra Murphy-Pak was nearing the end of a long day of appointments at Mayo Clinic's Florida campus as part of her ongoing care and treatment for amyotrophic lateral sclerosis, or ALS. Before she called it quits for the day, there was one more important stop she wanted to make. "I asked Dr. [Kevin] Boylan if I could wheel over to the labs to meet some of the researchers," Sandra tells us. "They're the ones working behind the scenes doing very important work, and I wanted to see the faces behind that work — to see the human element and to thank them for dedicating their lives and their careers to finding better treatments, and a possible cure, for ALS."
Dr. Boylan picked up his phone and called researcher Tania Gendron, Ph.D., who, with Dr. Boylan and Leonard Petrucelli, Ph.D., is looking into whether proteins found in spinal fluid can help guide ALS treatment. "I'm not a clinician and my work is in the lab," Dr. Gendron tells Mayo Clinic's research magazine, Discovery's Edge. "As scientists, we almost never have occasion to interact with patients."
Dr. Gendron tells us she was excited to meet Sandra, particularly given the timing. "We'd just published a study in Science Translational Medicine that had made use of the spinal fluid samples she'd been donating to Mayo Clinic, along with many other individuals, since her diagnosis," Dr. Gendron says. "I brought a copy of our manuscript with me and showed it to her so she could see what we're doing and how her samples are being used."
As Discovery's Edge reports, the study had identified a protein in spinal fluid to help determine whether drugs targeting a certain type of ALS have the intended biological effect. Dr. Gendron tells us the study was quickly followed by another that found a different spinal fluid protein that predicts prognosis. The findings will help her and others at Mayo Clinic take important steps forward in their quest to better understand and treat this mysterious neurological disease.
"Many patients are eager to know what their prognosis is, especially with ALS," she says. "You need biomarkers to facilitate the earlier diagnosis of ALS and to predict how quickly it's going to progress, and you also need biomarkers that will help guide treatment."
You also need patients like Sandra who are willing to participate in research studies to help advance that work. "Many of the studies we do here at Mayo Clinic are very far removed from patients," Dr. Gendron tells us. "We try to model their disease in a variety of ways, but ultimately what you want to do is get closer and closer to the patient, because that's what's going to best translate to a patient condition. And we couldn't do that without their help."
And that's help Sandra tells us she's more than willing to keep giving. "I'm very interested in the science behind my condition," she says. "My hope is that by participating in these clinical studies and by giving my spinal fluid and blood to Mayo Clinic, I can help researchers find better therapies, if not a cure, for those diagnosed with ALS in the future."
You can read more about Sandra and Dr. Gendron's ALS work here. Then help advance our work by sharing your comments below before using the social media tools to share this story with others.