Maria Remedi, PhD

Maria Remedi, PhD

Associate Professor, WashU Medicine

Understanding the Role of Potassium Channels in Physiology and Disease: Diabetes, Cardiovascular and Brain pathologies

My lab focuses on the role of potassium channels in physiology and disease. The goals of the Remedi lab are to understand the consequences of altered cellular excitability in various tissues, either promoted by changes in metabolism (including dietary and environmental) or by specific gene mutations.

We have previously focused on pancreas and heart, more specifically on diabetes and cardiovascular disease. However, we are currently interested in the association between diabetes and development of brain pathologies, as well as the effect of ion channel mutations in the CNS inducing neurological abnormalities such as developmental delay and cognitive impairments. We are interested in the mechanisms underlying both acute and chronic cell dysfunction in the CNS, as well as development of potential novel therapies to prevent or reverse these features. Using gene manipulation approaches, as well as human patient studies, we are developing understanding of the role of ion channels and diabetes in various processes.

We have developed several inducible transgenic, knockout and CRISPR mouse models of brain pathologies, including those that recapitulate the neurological features of human Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome and vascular abnormalities of Cantu Syndrome. Our studies over the past few years have led to major breakthroughs in the fields of diabetes and hyperinsulinism, and we have recently demonstrated loss of β-cell identity as a mechanism of β-cell failure in systemic diabetes, challenging the current understanding of permanent cell-death. Strikingly also, we were the first group to demonstrate that loss of β-cell mass, and therefore antidiabetic drug responsivity, is a reversible process; with major implications for human treatability. We have also made major contributions on the field of cardiovascular disease, with potential significant implications for improving treatability in humans. We now hope to shed light and advance our understanding of the mechanisms underlying of, and develop novel therapies for, the neurological abnormalities in various brain channelopathies; and more broadly in diabetes.

More about the Remedi lab