Flannick Lab

Boston Children's Hospital

Boston · United States

NIH-funded
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NIH R01 · 2024

In vivo and in vitro rare coding variant analyses to identify modulations of the adipocyte differentiation pathway that affect T2D risk

Abstract Type 2 diabetes (T2D) is a highly prevalent disease for which new therapies are needed. The adipocyte differentiation and lipid storage pathways are involved in rare and common forms of diabetes and are targeted by thiazolidinediones (TZDs), which are efficacious but cause undesirable complications. Designing better therapies to target adipocyte differentiation/lipid storage is impeded by incomplete knowledge of which genes in these pathways are relevant to T2D in humans, or how they might be modulated to achieve therapeutic efficacy. Disease-associated rare coding variants directly identify human disease-relevant gene modulations, and our recent study of 45,231 exomes suggested…

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