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Investigators Seek Answers to ALS Genetic Riddle

Collaborative Research at UK is a Step Toward Potential Treatment or Prevention of the Degenerative Disease









Amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) is a progressive and fatal neurodegenerative disease with no effective treatment. At any given time, more than 20,000 people living in the United States and about 450,000 people worldwide have ALS. Approximately 10 to 15 percent of ALS cases are familial and caused by gene mutations.



Funding from the UK Igniting Research Collaboration (IRC) program will enable a multi-disciplinary team of researchers to further explore these familial and genetic connections in ALS. Dr. Haining Zhu, UK College of Pharmacy, and Dr. David Fardo, UK College of Public Health Biostatistics, are co-PIs on the pilot project entitled “Searching for Genetic Modifiers in Familial ALS.” Co-investigators are Dr. Edward Kasarskis and Dr. Daret St. Clair, UK College of Medicine. The research will be supported by $30,000 in IRC funding for a 6-month project period; the investigators will report on their progress in early Spring 2019.



What do the investigators hope to learn? Scientists already know that ALS genes, such as FUS,  are involved in RNA metabolism. Although the majority of ALS cases are sporadic, these genes provide much-needed “molecular handles” for studying general disease mechanisms. In addition, studying mutant proteins has proven relevant to a subset of sporadic ALS cases.



The research team hypothesizes that yet-to-be-identified genetic modifiers function as protective factors in FUS mutation carriers or as additional detriments in ALS patients. The investigation may provide immediate functional insights into potential intervention avenues to treat ALS or to prevent the development of ALS in mutant FUS carriers.