{"id":9318,"date":"2020-04-29T10:10:57","date_gmt":"2020-04-29T08:10:57","guid":{"rendered":"https:\/\/www.resist-cluster.de\/?page_id=9318"},"modified":"2024-11-07T14:46:50","modified_gmt":"2024-11-07T13:46:50","slug":"prof-dr-doris-steinemann","status":"publish","type":"page","link":"https:\/\/www.resist-cluster.de\/en\/about-us\/research-team-2\/prof-dr-doris-steinemann\/","title":{"rendered":"Prof. Dr. Doris Steinemann"},"content":{"rendered":"

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Prof. Dr. Doris Steinemann participates in RESIST research project A2.<\/p>\n<\/div>

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<\/i><\/td>\nMy Research Interest in RESIST<\/td>\n<\/tr>\n<\/tbody>\n<\/table><\/h1><\/div>
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Our research focus in RESIST is the discovery of genetic and genomic variants that are associated with enhanced infection susceptibility in patients with primary immunodeficiency disease (PID) and their functional validation. This includes the identification of pathogenic SNPs as well as copy number variations (CNVs) from WES data of patients with PID. To identify structural variations (SVs) like inversions, insertions or translocations within genomic regions of known or so far unknown PID genes we will apply next generation mapping (NGM), a new method based on the de novo assembly of fluorescently labelled high molecular weight double-stranded DNA molecules (megabase size).<\/p>\n

Our aim is to increase the diagnostic yield and to better understand the pathomechanisms and clinical phenotypes of PID based on the underlying genetic variation. The long-term aim is to translate molecular genetic findings into new therapeutic targets and personalized treatment options.\u00a0<\/span><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>

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<\/i><\/span>Contact<\/span><\/a><\/div>
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Prof. Steinemann about her scientific work<\/h1><\/div>