Developing new tools to interpret rare genetic variantsDeveloping new tools to interpret rare genetic variants
Improving gene editing methods and testing novel genetic corrective therapiesImproving gene editing methods and testing novel genetic corrective therapies
Identifying modifiers of genetic diseaseIdentifying modifiers of genetic disease
About Our Lab
The McNally Laboratory identifies and studies mechanisms of mutations that cause genetic disease. Mutations in cytoskeletal and sarcomere proteins cause heart failure and muscle weakness. We use novel computational methods to analyze whole genome sequencing from humans to identify novel genes and alleles linked to human disease. We model these mutations in human cells using induced pluripotent stem cell technologies to determine how these mutations act. We are defining gene-gene interactions using genome analysis, genome editing, and quantitative trait locus mapping.
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Selected Publications
- Vanhoutte D, Schips TG, Kwong JQ, Davis J, Tjondrokoesoemo A, Brody MJ, Sargent MA, Kanisicak O, Yi H, Gao QQ, Rabinowitz JE, Volk T, McNally EM, Molkentin JD Thrombospondin expression in myofibers stabilizes muscle membranes. Elife 2016 Sep 26;5 PMID: 27669143, PMCID: PMC5063588
- Nadadur RD, Broman MT, Boukens B, Mazurek SR, Yang X, van den Boogaard M, Bekeny J, Gadek M, Ward T, Zhang M, Qiao Y, Martin JF, Seidman CE, Seidman J, Christoffels V, Efimov IR, McNally EM, Weber CR, Moskowitz IP Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm. Sci Transl Med 2016 Aug 31;8(354):354ra115 PMID: 27582060
