Chiara Gamberi, Ph.D., an assistant professor of biology in the Coastal Carolina University Gupta College of Science and a founding member of the University’s Disease Modeling Research Center, has been awarded a $50,000 grant from the TANGO2 Research Foundation for her research project titled, “A lipidomic analysis of multiple model systems to better understand the role of TANGO2 in lipid homeostasis.” Gamberi, co-investigator of the study, will collaborate with Michael Sacher, Ph.D., a professor of biology at Concordia University in Montréal, Canada, and the study’s principal investigator.

Gamberi and Sacher will employ three model systems and combined molecular and genetic analyses to identify altered lipids and pathways in TANGO2 deficiency disorder (TDD), a rare genetic disorder. TDD causes metabolic encephalopathy and cardiac arrhythmias that can be fatal in children bearing mutations in the TANGO2 gene. Previous studies have found changes in several lipid species in human cells lacking TANGO2 function.

In January 2023, Gamberi and Sacher published the first TDD model in the fruit fly Drosophila melanogaster that recapitulates crucial aspects of TDD. Using this model, the Gamberi and Sacher research teams have also shown that vitamin B5 can reduce several defects associated with TDD. This new comparative study in the three model systems will aid in the identification of key lipids and pathways involved in TDD, and shed light on how vitamin B5 affects the lipid profile and may suggest alternative or additional treatment options.

The TANGO2 Research Foundation supports researchers and scientists at various career stages in order to advance the understanding of TDD and basic disease mechanisms, identify innovative approaches to therapeutics, and develop strategies that support patients living with TDD in carrying out their activities of daily living.

For half a decade, the TANGO2 Research Foundation has successfully carried out its mission and funded innovative basic and clinical research conducted by investigators worldwide. The foundation has awarded nearly $760,000 in funding since its inception, supporting projects that have the potential to advance the field and have an impact on children and young adults living with TDD as rapidly as possible.

About the TANGO2 Research Foundation The TANGO2 Research Foundation, a patient advocacy rare disease organization, was founded in 2017 with the mission to lead the way in finding a cure for TANGO2 deficiency disorder by helping to fund, coordinate, and guide scientific research. The foundation, a registered nonprofit 501(c)(3) organization, also offers family outreach and support in addition to raising awareness about this serious disease. For more information, visit tango2research.org.

About TANGO2 deficiency disorder This rare genetic disorder is incurable and was discovered in 2016. Symptoms first appear as children reach about 12 months and begin to face progressive severe health challenges, including life-threatening arrhythmias, rhabdomyolysis, and metabolic crises. In addition, many suffer from intellectual disabilities and developmental delays, loss of motor and cognitive skills, muscle weakness, seizures, and more.