Scientific cells visualization

Research and Discovery

 
Digital heart scan visualization

Inherited heart disease is the next frontier of cardiovascular research discovery. There are thousands of genes in the genome, but there is still a lot still unknown about how all these genes work and how they interact together

Our group discovered the X-ray structure of cardiac calsequestrin, which advanced the understanding of the inherited arrhythmia condition.
Molecular structure visualization

Reference: Titus EW, Deiter FH, Shi C, Wojciak J, Scheinman M, Jura N, Deo RC. The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia. Nat Struct Mol Biol. 2020 Dec;27(12):1142-1151. PMID: 33046906

 

Ongoing clinical studies

Contact us to find out more about any of these studies.
UCSF Cardiovascular Genetics Biobank

We are actively growing a biobank of DNA from patients with a range of inherited cardiovascular conditions. The biobank is a valuable resource for approved researchers to make new DNA discoveries.

POST SCD Research Study

A first-of-its-kind NIH-funded study examining the causes of sudden deaths in the County of San Francisco, to help understand the role of genetics in sudden death.

Understanding the biology of genetic conditions using stem cells and comprehensive genetic analysis

We and our partners are making stem cells and doing comprehensive genetic analysis of samples from people with a range of cardiovascular conditions. This helps us understand the biology of these conditions on a much deeper level.

Genetic analysis of families with inherited cardiovascular diseases

In some families, multiple family members have been affected by the same cardiovascular condition but genetic testing cannot find the cause. By doing comprehensive genetic analysis of these families, we hope to discover new genetic causes.

UCSF Cardiovascular Genetics Biobank

We are actively growing a biobank of DNA from patients with a range of inherited cardiovascular conditions. The biobank is a valuable resource for approved researchers to make new DNA discoveries.

Tenaya Therapeutics

"MyPeak-1 trial
We are part of a multi-site clinical trial testing a potential gene therapy for people with HCM caused by a mutation in the MYBPC3 gene".

PKP2- ARVC Natural History Study
We are monitoring disease progression in patients with PKP2 mutation-associated ARVC over a five-year long study.

RIDGE trial
We are part of a multi-site clinical trial testing a potential gene therapy for people with ARVC caused by a mutation in the PKP2 gene.

Contact Us

Patients interested in learning more about our research studies should contact the study coordinator by email at .

Researchers interested in collaborating with us are encouraged to contact us at .

Medical professional on phone

Recent publications:

Garbutt TA, Wang Z, Wang H, Ma H, Ruan H, Dong Y, Xie Y, Tan L, Phookan R, Stouffer JA, Vedantham V, Yang Y, Qian L, Liu J. Epigenetic Regulation of Cardiomyocyte Maturation by Arginine Methyltransferase CARM1. Circulation. 2024 May 7;149(19):1501-1515. doi: 10.1161/CIRCULATIONAHA.121.055738. Epub 2024 Jan 15. PMID: 38223978; PMCID: PMC11073921.

Ciuffo L, Tung M, Dukes JW, Vittinghoff E, Moss JD, Lee RJ, Lee BK, Tseng ZH, Vedantham V, Olgin JE, Scheinman MM, Hsia H, Ramchandani VA, Gerstenfeld EP, Marcus GM. Acute alcohol exposure and electrocardiographic changes: Finding from the HOLIDAY trial. J Electrocardiol. 2024 Mar-Apr;83:26-29. doi: 10.1016/j.jelectrocard.2024.01.003. Epub 2024 Jan 14. PMID: 38295539.

Padmanabhan A, de Soysa TY, Pelonero A, Sapp V, Shah PP, Wang Q, Li L, Lee CY, Sadagopan N, Nishino T, Ye L, Yang R, Karnay A, Poleshko A, Bolar N, Linares-Saldana R, Ranade SS, Alexanian M, Morton SU, Jain M, Haldar SM, Srivastava D, Jain R. A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation. Nat Cardiovasc Res. 2024 Mar;3(3):317-331. doi: 10.1038/s44161-024-00431-1. Epub 2024 Feb 23. PMID: 39196112; PMCID: PMC11361716.

Rämö JT, Kany S, Hou CR, Friedman SF, Roselli C, Nauffal V, Koyama S, Karjalainen J, Maddah M, Palotie A, Ellinor PT, Pirruccello JP; FinnGen. Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity. JAMA Cardiol. 2024 May 1;9(5):418-427. doi: 10.1001/jamacardio.2024.0080. PMID: 38477908; PMCID: PMC10938251.

Raghavan A, Pirruccello JP, Ellinor PT, Lindsay ME. Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease. Arterioscler Thromb Vasc Biol. 2024 Feb;44(2):334-351. doi: 10.1161/ATVBAHA.123.318771. Epub 2023 Dec 14. PMID: 38095107; PMCID: PMC10843699.

Jurgens SJ, Wang X, Choi SH, Weng LC, Koyama S, Pirruccello JP, Nguyen T, Smadbeck P, Jang D, Chaffin M, Walsh R, Roselli C, Elliott AL, Wijdeveld LFJM, Biddinger KJ, Kany S, Rämö JT, Natarajan P, Aragam KG, Flannick J, Burtt NP, Bezzina CR, Lubitz SA, Lunetta KL, Ellinor PT. Rare coding variant analysis for human diseases across biobanks and ancestries. Nat Genet. 2024 Sep;56(9):1811-1820. doi: 10.1038/s41588-024-01894-5. Epub 2024 Aug 29. PMID: 39210047.

Cutler MJ, Eckhardt LL, Kaufman ES, Arbelo E, Behr ER, Brugada P, Cerrone M, Crotti L, deAsmundis C, Gollob MH, Horie M, Huang DT, Krahn AD, London B, Lubitz SA, Mackall JA, Nademanee K, Perez MV, Probst V, Roden DM, Sacher F, Sarquella-Brugada G, Scheinman MM, Shimizu W, Shoemaker B, Sy RW, Watanabe A, Wilde AAM. Clinical Management of Brugada Syndrome: Commentary From the Experts. Circ Arrhythm Electrophysiol. 2024 Jan;17(1):e012072. doi: 10.1161/CIRCEP.123.012072. Epub 2023 Dec 15. PMID: 38099441; PMCID: PMC10824563.

Lee CH, Higgs E, Scheinman MM. A Wide Complex Tachycardia. Circulation. 2024 Jun 4;149(23):1852-1854. doi: 10.1161/CIRCULATIONAHA.124.069785. Epub 2024 Jun 3. PMID: 38829932.

Alfares FA, Sohn JH, Lee YJ, Farrell R, Delling FN, Avasarala K, Moon-Grady AJ, Anwar S, Austin KM. Mitral Annular Disjunction: An Under-Recognized Entity in Pediatrics. JACC Case Rep. 2024 Mar 21;29(9):102297. doi: 10.1016/j.jaccas.2024.102297. PMID: 38550911; PMCID: PMC10973181.