The Tristani-Firouzi Laboratory

The Tristani Lab Cardiovascular Research Team at CVRTI Fall BBQ — CVRTI Tristani Lab University of Utah Health Care

The Tristani-Firouzi Laboratory is dedicated to the study of ion channel biophysics and Precision Cardiovascular Medicine, using a multi-disciplinary approach coupled with cutting-edge research techniques. Dr. Tristani-Firouzi is a board-certified pediatric cardiologist and clinician-scientist with nearly 20 years of continuous federal and foundational funding focusing on the genomic basis of inherited arrhythmia syndromes and congenital heart disease (CHD); the functional characterization of putative CHD and arrhythmia disease-causing genetic variants; the mechanisms controlling heart development and cardiac excitability; and fundamental properties of voltage-sensitive cardiac proteins.

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Featured Publications

Genomic analyses implicate noncoding de novo variants in congenital heart disease https://pubmed.ncbi.nlm.nih.gov/32601476/	A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffected trios.	Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Genepanel.iobio – an easy to use web tool for generating disease- and phenotype-associated gene lists https://pubmed.ncbi.nlm.nih.gov/31829207/	We expect genepanel.iobio will improve the ease and diagnostic value of generating gene:disease association lists for genetic test ordering and whole genome or exome sequencing variant prioritization.	Ekawade A, Velinder M, Ward A, DiSera T, Miller C, Qiao Y, Marth G. Genepanel.iobio – an easy to use web tool for generating disease- and phenotype-associated gene lists. BMC Med Genomics. 2019 Dec 11;12(1):190. doi: 10.1186/s12920-019-0641-1. PubMed PMID: 31829207; PubMed Central PMCID: PMC6907284.
The voltage-sensitive cardiac M 2 muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K + current https://pubmed.ncbi.nlm.nih.gov/30155776/	we investigated the relative contribution of two distinct mechanisms of IKACh inward rectification measured in atrial myocytes: a rapid component due to KACh channel block by intracellular Mg2+ and polyamines; and a time- and concentration-dependent mechanism.	Salazar-Fajardo PD, Aréchiga-Figueroa IA, López-Serrano AL, Rodriguez-Elias JC, Alamilla J, Sánchez-Chapula JA, Tristani-Firouzi M, Navarro-Polanco RA, Moreno-Galindo EG. The voltage-sensitive cardiac M2 muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K+ current.

The Tristani-Firouzi Lab Research Team

	Martin Tristani-Firouzi, M.D.
Scott Cho Research Associate	Karissa Wang Undergraduate Student Research Assistant	Natalia Torres Research Associate
Karishma Shah Undergraduate Student Research Assistant	Chris Kauffman Lab Technician	Enrique Coca Undergraduate Student Research Assistant
Yueqin Yang Research Associate