New Cell Line Could Help Determine Pathogenicity of Gene Variants Causing LCFAOD

In the first International Network of Fatty Acid Oxidation Research (INFORM) 2022 Lecture Series, a University of Pittsburgh second-year medical student, Meena Sethuraman, presented a new cell line that can be used for studies and to assess the pathogenicity of ACADVL gene variants. These variants cause VLCAD deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD).

This lecture was covered by The Rare Disease Advisor, the web’s premier source of news, perspectives and resources for clinicians who treat patients with rare diseases.

The full article can be found here.