A significant part of cardiomyopathies develops as a result of germline pathogenic gene variant(s) either in isolated or syndromic forms, however the incomplete penetrance and the progression tendency pattern of the individual cardiomyopathy phenotypes show significant heterogeneity. Based on our preliminary data, T cells may play a key role in the phenotypic development of cardiomyopathies. In addition to deep phenotyping and IV generation family tree analysis, we use a single-cell genomics, transcriptomics and immunomics approach to depict the correlation between genotype and phenotype penetration-progressivity from a molecular perspective with special emphasis of the T cell differentiation, lysosomal and ras signaling pathways analysis. \u00cdme az angol ford\u00edt\u00e1s:<\/p>\n
From a methodological perspective, we employ 10x microfluidics-based 5\u2032 single-cell transcriptomics, V(D)J immunomics analysis (versions v2 and v3), as well as CytAssist 3\u2032 spatial transcriptomic assays.<\/p>\n
We expect, based on our research questions to explore the connection between T cell-induced cardiomyopathy dysfunction, that could lead to improving the quality of life of patients by revealing new diagnostic, biomarker-prognostic and therapeutic targets.<\/p>\n
<\/p>\n
Research group members:<\/p>\n
\u00c1rp\u00e1d Ferenc Kov\u00e1cs MD, research group leader<\/p>\n
S\u00e1ndor D\u00e1vid Kov\u00e1cs, PhD student<\/p>\n
Zsuzsanna Szil\u00e1gyi, TDK student<\/p>\n
Dr. J\u00falia Krisztina Erhardt, volunteer<\/p>\n
<\/p>\n
Former TDK students:<\/p>\n
J\u00falia Krisztina Erhardt, TDK student (2021-2025, SE TDK I. prize 2023, OTDK II. prize 2023)<\/p>\n
Luca Kamilla Li, TDK student (2021-2025, SE TDK 2023 III. prize, 2025 III. Prize, International Student Conference, Poznan: I. prize)<\/p>\n
S\u00e1muel Jenei, TDK student (2022-2024)<\/p>\n","protected":false},"excerpt":{"rendered":"
A significant part of cardiomyopathies develops as a result of germline pathogenic gene variant(s) either in isolated or syndromic forms, however the incomplete penetrance and the progression tendency pattern of the individual cardiomyopathy phenotypes show significant heterogeneity. Based on our preliminary data, T cells may play a key role in the phenotypic development of cardiomyopathies. …<\/p>\n","protected":false},"author":102587,"featured_media":0,"parent":228,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"class_list":["post-8859","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/8859","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/users\/102587"}],"replies":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/comments?post=8859"}],"version-history":[{"count":2,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/8859\/revisions"}],"predecessor-version":[{"id":8861,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/8859\/revisions\/8861"}],"up":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/pages\/228"}],"wp:attachment":[{"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/media?parent=8859"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/categories?post=8859"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/semmelweis.hu\/patologia1\/wp-json\/wp\/v2\/tags?post=8859"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}