Pitt Pediatrics congratulates Udai Pandey, PhD, for his recent R01 grant from the NIH for his project “Investigating the Contribution of ALS/FTD-Associated Mutations in the NEK1 Kinase to Disease Pathophysiology”. This R01 is a multi-PI R01, in partnership with Evangelos Kiskinis from Northwestern University, that spans over 5 years. 
Amyotrophic later sclerosis (ALS) is a devastating neurodegenerative disease that is characterized by a progressive inability to control muscle movement. ALS patients are often comorbid with frontotemporal dementia (FTD), commonly known as ALS/FTD. The majority of ALS is sporadic in nature, while 10% of patients suffer from familial forms of the disease, which has enabled the identification of causative genetic variants. ALS can be caused by mutations in genes that encode proteins involved in diverse cellular functions.
Recently, studies have highlighted NIMA-related kinase 1 (NEK1) as a major genetic contributor to ALS. The role of NEK1 in the central nervous system (CNS) and the mechanisms that lead to mutant NEK1 ALS pathophysiology remain unresolved. Pandey, Kiskinis and the team plan to use NEK1 cellular models, induced pluripotent stem cell (iPSC) patient-derived MNs, in vivo Drosophilia models and ALS-NEK1 postmortem patient CNS tissue to determine three things; a) determine the mechanisms by which ALS-associated mutations impair MN function, b) characterize the physiological substrates for NEK1-dependent phosphorylation, and c) validate the contribution of these changes towards neuropathology in ALS.
The team hope to shed light into the cellular mechanisms that are compromised by mutant NEK1 in neurons. Their studies will also likely uncover potential therapeutic targets for a significant percentage of ALS/FTD patients.
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