The Yale School of Medicine Section of Cardiovascular Medicine invited Arya Mani MD, to present at Yale Cardiovascular Medicine Grand Rounds.
Dr. Mani celebrated his appointment as a Robert W. Berliner Professor of Medicine and Genetics on Tuesday, January 31, 2023. Dr. Mani’s lecture entitled “The genetic approach to cardiovascular diseases, progress and challenges” outlined three recent discoveries from his lab that led to fundamental new understanding of the basis of metabolic syndrome and hypertension. He emphasized that examining both rare and common human genetic variants have utility for mechanistic discovery and insights into clinical syndromes, but these approaches differ in establishing causation and implications for risk.
Dr. Mani described recent work on DYRK1B and CELA2A, proteins his lab identified as rare variants associated with metabolic syndrome and cardiovascular disease in families. Based on the Mani lab’s groundbreaking work, these proteins may lead to novel therapeutic approaches. Dr. Mani further explained that roles for more common genetic variants can be ascertained via GWAS, as was the case for his lab’s studies of PRDM6. The lab found that dysfunction of this histone methyltransferase in smooth muscle can cause hypertension by altering the fate of renin-producing cells.
Dr. Berliner was a former Dean of Yale School of Medicine and an eminent renal physiologist who made seminal discoveries in sodium and potassium transport in the kidney. It is fitting that the endowed chair honoring Dr. Berliner now allows Dr. Mani, another outstanding physician-scientist, to continue his work on hypertension and its links to metabolic syndrome and cardiovascular disease.
Yale Cardiovascular Medicine Grand Rounds are held Tuesdays at 8:00 a.m. in the Fitkin Amphitheatre, LMP 1094.