Recent study says social-media trend funded major finding.
By Kasra Zarei
The “Ice Bucket Challenge” has funded a major research finding related to amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, according to a recent report published in Nature Genetics.
At least 17 million people have participated nationally in the ALS Ice Bucket Challenge since two years ago, raising an estimated $115 million.
While the social-media phenomenon was criticized for being a fad in which most participants did not know what Lou Gehrig’s disease is, two years later, the effort has funded a major finding.
A recently published study conducted by more than 80 researchers spanning 11 countries identified an association of the NEK1 gene with Lou Gehrig’s. In the study, variants of NEK1 gene, as well as several other genes characterized in previous studies, are associated with increased susceptibility to the disease.
The finding further links the pathology of the disease to pathways involved in DNA-damage response and maintenance of neuronal processes.
The work has excited researchers in the field, including Andrew Pieper, a University of Iowa professor of psychiatry and neurology, whose work focuses on studying neuroprotective compounds with applications to the disease.
“The reported association is an exciting finding, both scientifically and for the fact that it was enabled by a massive socially driven fundraising effort in a time when traditional sources of funding for scientific research have become more difficult to secure,” Pieper said.
Besides providing new, important insights concerning the genetic basis of the disease, the discovery funded by the Ice Bucket Challenge provides another potential target for therapy development for such patients.
Weam Shahin, a UI postdoctoral scholar, said that among the key challenges in the treatment of the disease is the late identification of patients.
“By the time paralysis occurs and diagnosis is made, lower motor neurons are already dead or irreversibly injured,” Shahin said. “This limits the potential benefits of therapies and explains the numerous failed trials currently observed.”
With the advances in DNA sequencing, identifying these genetic variants could aid in the early diagnosis or determine whether individuals are at increased risk of developing the disease.
“The lack of early diagnostic tools and the diverse etiology of ALS make it challenging to develop an effective treatment,” Shahin said. “Dissecting the pathogenesis of ALS following the diverse contributors to the disease will identify the common affected pathways and novel targets for more effective therapies for ALS.”
To validate the association of NEK1 genetic variants with susceptibility to Lou Gehrig’s disease, prospective studies are required as the next step to ensure that the proposed markers accurately identify future patients.
“Starting with young subjects carrying these genetic variants and following them to establish the causation of the proposed genetic differences on the natural history of the disease is imperative,” Shahin said. “Simultaneously, studying animal models carrying these human genetic variants will elucidate the role of these genetic variants in ALS development and prognosis.”
Genetic variants are of particular interest to many researchers, including Shahin, who is working to create personalized medical approaches for the disease with John Engelhardt, the UI Carver head of molecular medicine.
“Individuals carrying certain known genetic variants are more susceptible to ALS development and more responsive to certain types of treatment,” Shahin said.
A personalized approach to treating the disease is crucial in selecting the most suitable treatment for the right patients early in the course of the illness and thus improving the efficacy of treatment.
What is not known to most people is that the disease is different for every person, and personalized treatment and care approaches are needed to provide the maximum benefit and comfort to patients.
Andrea Swenson, a UI clinical assistant professor of neurology who works in the clinic, emphasizes the personalized approaches needed to care for patients.
“Our multidisciplinary ALS Clinic at the University of Iowa offers an individualized approach — our goal is to help our patients live with ALS,” Swenson said. “Our team of physicians, nurses, and therapists guide patients through the stages of the disease, provide resources and support for patients and their families, and offer hope through clinical trials and research.”