The National Institutes of Health (NIH) has awarded a $687,087, one-year grant to Barrow Neurological Institute and the Translational Genomics Research Institute (TGen) to identify peptide, protein, and RNA biomarkers as indicators of Amyotrophic Lateral Sclerosis (ALS) progression.

This degenerative disease, also known as Lou Gehrig’s disease, kills motor neurons — specialized nerve cells in the brain and spinal cord — causing progressive weakness and eventually death, usually in 3 to 5 years after diagnosis. No method of early detection exists for ALS, nor are there effective treatments — let alone a cure.

ALS usually strikes adults in late middle age. ALS forced Gehrig — a 7-time All-Star first baseman and 6-time World Series champion, known as “The Iron Horse” for playing 2,130 consecutive games with the New York Yankees — to retire from baseball in 1939 at age 36. He died two years later.

“We hypothesize that specific biomarker signatures can be identified that correlate to the rate of disease progression, and that cellular pathways can be discovered that contribute to disease progression,” said Dr. Robert Bowser, Director of Barrow’s Gregory W. Fulton ALS and Neuromuscular Research Center, and the study’s lead investigator.

Key to this study are recently proven methods led by TGen to identify extracellular RNA and conduct bioinformatic analysis of these pieces of genomic information from bodily fluids, including cerebral spinal fluid (CSF).

“The goal of this project is to investigate changes in DNA, extracellular RNA, and ultimately proteins that may be predictive of ALS progression,” said Dr. Patrick Pirrotte, head of TGen’s Proteomics Production Facility. “This will be done to identify biomarkers that indicate both the presence and progression of this disease.”

Dr. Kendall Van Keuren-Jensen, Associate Professor in TGen’s Neurogenomics Division, is leading the search for extracellular RNA, and Dr. Seungchan Kim, Associate Professor in TGen’s Integrated Cancer Genomics Division, is leading bioinformatics and data integration.

Drs. Pirrotte, Van Keuren-Jensen, and Kim are all co-investigators on this study.

Advanced genomic and proteomic technologies will be used to analyze blood and CSF from among 60 participants at Barrow, part of Dignity Health St. Joseph’s Hospital and Medical Center. Of those, 30 will be ALS patients within one year of diagnosis, 20 will be control patients with other neurological disorders (such as multiple sclerosis), and 10 healthy individuals.

Identifying biomarkers that indicate early onset of ALS, and eventually pairing them with new treatments for patients in clinical trials, would be a major breakthrough.

Physicians have not been able to diagnose the disease prior to the significant loss of motor neurons. Nor have they been able to use biological measures to track the progression of the disease. And it remains unclear why the disease kills some patients in less than a year, while others can survive10 years or longer.

This research is supported by the National Institute of Neurological Disorder and Stroke of the National Institutes of Health under Award Number R56NS061867. The content is solely the responsibility of the authors and does not necessarily represent the official views of NIH.