{"id":14251,"date":"2025-03-27T10:19:08","date_gmt":"2025-03-27T09:19:08","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?page_id=14251"},"modified":"2025-04-25T13:47:15","modified_gmt":"2025-04-25T11:47:15","slug":"insightrp2","status":"publish","type":"page","link":"https:\/\/www.humangenetik-umg.de\/en\/research\/wollnik-research-group\/insightrp2\/","title":{"rendered":"InsightRP2"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row attached=&#8221;true&#8221; padding=&#8221;2&#8243;][vc_column][vc_empty_space height=&#8221;50&#8243;][vc_column_text align=&#8221;center&#8221; css=&#8221;.vc_custom_1742823595069{margin-bottom: 0px !important;}&#8221;]\n<h1 style=\"text-align: center;\"><span style=\"color: #ff9900;\">InsightRP2<\/span><\/h1>\n[\/vc_column_text][vc_column_text align=&#8221;center&#8221; css=&#8221;.vc_custom_1743065331305{margin-bottom: 0px !important;}&#8221;]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Establishing novel therapeutic approaches for <em>RP2<\/em>-associated retinitis pigmentosa<\/span><\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner width=&#8221;2\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1743065362051{margin-bottom: 0px !important;}&#8221;]Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive deterioration of photoreceptors. RP affects about 1 in 4,000 persons worldwide and can be caused by variants in numerous different genes. Mutations in the <em>RP2<\/em> gene are responsible for a major proportion of X-linked retinitis pigmentosa (XLRP).[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2025\/03\/logo-insightrp2-200.png&#8221; image_size=&#8221;full&#8221; align=&#8221;right&#8221;][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743065457819{margin-bottom: 0px !important;}&#8221;]InsightRP2 is a multimodular, interdisciplinary project of the Wollnik research group to investigate the genetic causes, molecular disease mechanism and novel therapeutic approaches for <em>RP2<\/em>-associated retinitis pigmentosa (<em>RP2<\/em>-RP). The key components of our project are:[\/vc_column_text][mk_custom_list icon_color=&#8221;#ff9900&#8243; el_class=&#8221;custom-list&#8221;]\n<ul>\n<li><a style=\"text-decoration: none;\" href=\"#registry\">Patient registry<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#imaging\">Retinal AI imaging analysis to determine morphological parameters of the course of the disease<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#mechanism\">Elucidation of molecular disease mechanisms<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#genetherapy\">Development of gene therapy &amp; genome-editing therapy<\/a><\/li>\n<\/ul>\n[\/mk_custom_list][vc_empty_space][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][mk_page_section section_id=&#8221;registry&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1743065631049{margin-bottom: 0px !important;}&#8221;]\n<h2>Patient registry<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743065764212{margin-bottom: 0px !important;}&#8221;]InsightRP2 is the first global registry specifically for patients with retinitis pigmentosa caused by changes in the <em>RP2<\/em> gene. It collects clinical and genetic information on the causes, medical history, and course of the visual impairment as well as the treatment of the affected individual. We also gather imaging data including images of the back part of the eye (funduscopy; optical coherence tomography, OCT) to analyze how the retina changes in the course of the disease. The InsightRP2 registry helps clinicians and researchers better understand the genetic basis and progression of RP2-associated retinitis pigmentosa. Additionally, they can focus their research and the development of future treatment approaches on enhancing the patients\u2019 quality of life<\/p>\n<p>We aim to find out which types of mutations in the <em>RP2<\/em> gene occur more frequently and how individual mutations impact on the age of onset and course of the disease. We also want to learn more about how the disease progresses from the perspective of those affected and whether there are additional associated conditions such as a tendency to rheumatic problems. Additionally, the registry helps to find patients with this particular form of retinitis pigmentosa and to facilitate their access to up-to-date information and potential therapy studies in the future. The registry is set up by the Institute of Human Genetics and uses a secure REDCap-based database hosted at the University Medical Center G\u00f6ttingen.<\/p>\n<p>InsightRP2 is open to all patients, regardless of sex or age, with a confirmed diagnosis of retinitis pigmentosa caused by a change (pathogenic variant, mutation) in the <em>RP2<\/em> gene. Individuals with other types of retinitis pigmentosa are not eligible to enroll in InsightRP2. However, they can, e.g., participate in the registry of the German patient group for degenerative retinal diseases, ProRetina.[\/vc_column_text][vc_empty_space][vc_column_text css=&#8221;.vc_custom_1745581268505{margin-bottom: 0px !important;}&#8221;]<strong>Registration by patients<\/strong>[\/vc_column_text][vc_column_text css=&#8221;.vc_custom_1745581294924{margin-bottom: 0px !important;}&#8221;]Participants can register online. To participate in the study, please use one of the following links to the UMG registration site, depending on the patient\u2019s age:[\/vc_column_text][vc_column_text css=&#8221;.vc_custom_1743065871619{margin-bottom: 0px !important;}&#8221;]<a href=\"https:\/\/redcap.umg.eu\/surveys\/?s=RRTCPERW9EEKJXDM\" target=\"_blank\" rel=\"noopener\">Patient information and consent form \u2013 Adults<\/a><\/p>\n<p><a href=\"https:\/\/redcap.umg.eu\/surveys\/?s=F9EWAPWNR7AL98LN\" target=\"_blank\" rel=\"noopener\">Patient information and consent form &#8211; Adolescents (14-17 years)<\/a><\/p>\n<p><a href=\"https:\/\/redcap.umg.eu\/surveys\/?s=E4484KKLJKCAPKN9\" target=\"_blank\" rel=\"noopener\">Patient information and consent form &#8211; Children<\/a>[\/vc_column_text][vc_column_text css=&#8221;.vc_custom_1745581589977{margin-bottom: 0px !important;}&#8221;]For more details on participation and registration, see also our infosheet:<\/p>\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2025\/03\/insightrp2-infosheet-participation-registration.pdf&#8221; target=&#8221;_blank&#8221; bg_color=&#8221;#ff9900&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Infosheet InsightRP2 registration (pdf)[\/mk_button][\/vc_column_text][vc_empty_space][vc_column_text css=&#8221;.vc_custom_1745581341808{margin-bottom: 0px !important;}&#8221;]<strong>Enrollment by physicians<\/strong>[\/vc_column_text][vc_column_text css=&#8221;.vc_custom_1745581386896{margin-bottom: 0px !important;}&#8221;]Treating physicians can enroll affected individuals in the registry and retinal AI imaging analysis. For this, we will generate a secured personal link for uploading medical data. Please contact us at: <a href=\"mailto:insight.rp2@med.uni-goettingen.de\">insight.rp2@med.uni-goettingen.de<\/a>[\/vc_column_text][vc_column_text css=&#8221;.vc_custom_1745581489650{margin-bottom: 0px !important;}&#8221;]For more details on enrollment, see also our infosheet:<\/p>\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2025\/04\/insightrp2-infosheet-en-ophthalmologists-online.pdf&#8221; target=&#8221;_blank&#8221; bg_color=&#8221;#ff9900&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Infosheet InsightRP2 enrollment (pdf)[\/mk_button][\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743066016575{margin-bottom: 0px !important;}&#8221;]<strong>Contact<\/strong>[\/vc_column_text][vc_column_text css=&#8221;.vc_custom_1745581623708{margin-bottom: 0px !important;}&#8221;]If you have any questions or are interested in receiving further information about the registry, please send an email to the study manager, Dr. Nina B\u00f6gershausen: <a href=\"mailto:insight.rp2@med.uni-goettingen.de\">insight.rp2@med.uni-goettingen.de<\/a>[\/vc_column_text][vc_empty_space][\/vc_column_inner][\/vc_row_inner][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_size=&#8221;full&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;imaging&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1743066973105{margin-bottom: 0px !important;}&#8221;]\n<h2>Retinal AI Imaging Analysis<\/h2>\n[\/vc_column_text][vc_empty_space height=&#8221;20px&#8221;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743066183898{margin-bottom: 0px !important;}&#8221;]We collect imaging data such as funduscopic images and optical coherence tomography (OCT) scans. In collaboration with Prof Peter Krawitz and his team at the Institute for Genomic Statistics and Bioinformatics Bonn, we then analyze this data using a specifically programmed artificial intelligence (AI). Our goal is to determine morphological parameters indicative of disease progression.<\/p>\n<p>A key advantage of AI in imaging analysis lies in its ability to detect even subtle changes in the retinal structure at an early stage. For example, AI algorithms can identify decreases in photoreceptor density and changes in the retinal pigment epithelium (RPE) layer with high precision. We aim to exploit these capabilities to objectively describe the progression of <em>RP2<\/em>-associated RP at an imaging morphological level. We anticipate that this will help to improve clinical diagnosis and follow-up and will inform individual prognosis. Furthermore, we aim to use AI imaging analysis in the process of developing new therapies, as a tool to assess the effectiveness of treatment approaches.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;mechanism&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1743066984479{margin-bottom: 0px !important;}&#8221;]\n<h2>Elucidating molecular disease mechanisms<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743066355860{margin-bottom: 0px !important;}&#8221;]<em>RP2<\/em> encodes the RP2 protein, a ubiquitously expressed 350-amino-acid protein. RP2 is expressed throughout the human retina, particularly in the photoreceptor cells\u2019 ciliary apparatus. Within this structure, RP2 plays a crucial role in maintaining ciliary structure and function. RP2 is known to function as a GTPase activating protein (GAP) for the small GTPase ARL3, a ciliary protein vital for transporting proteins to the photoreceptors\u2019 outer segments.<\/p>\n<p>To investigate RP2\u2019s precise function in different retinal cell types, we have been collaborating with the team of Dr Lukas Cyganek (Head of UMG Stem Cell Unit G\u00f6ttingen, SCU). Using CRISPR\/Cas9 technology, we introduced various mutations that have also been identified in patients into induced pluripotent stem cells (iPSCs). These iPSCs are then differentiated into various retinal tissues and organoids, which we analyze in detail by modern high-throughput and OMICS technologies (e.g. single-cell transcriptomics, proteinomics, metabolomics) as well as cell biological and molecular methods. Integrative analysis of OMICS data is performed. We expect these studies to provide new insights into the molecular mechanism of <em>RP2<\/em>-associated RP.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;genetherapy&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1743067013297{margin-bottom: 0px !important;}&#8221;]\n<h2>Developing gene therapy &amp; genome editing therapy<\/h2>\n[\/vc_column_text][vc_empty_space height=&#8221;20px&#8221;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743066518420{margin-bottom: 0px !important;}&#8221;]Insights gained by our molecular studies will guide the development of new therapeutic strategies, focusing on gene replacement and genome editing. Gene therapy holds significant promise for treating degenerative retinal disorders by replacing the defective gene, potentially stabilizing or even improving the affected individual\u2019s vision. A well-known example is Luxturna\u00ae, a gene therapy that has been successfully used in patients with <em>RPE65<\/em> mutations. Preclinical studies have also demonstrated the feasibility of replacing the <em>RP2<\/em> gene through gene therapy, restoring retinal cell function in model systems. These results suggest that gene therapy may also be a viable therapeutic option for <em>RP2<\/em>-associated RP, in particular as <em>RP2<\/em> is a \u201csmall\u201d gene and thus easier to be delivered into target cells. We aim to further pursue these approaches to develop a clinically applicable gene therapy for <em>RP2<\/em>-associated retinitis pigmentosa.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row attached=&#8221;true&#8221; padding=&#8221;2&#8243;][vc_column][vc_empty_space height=&#8221;50&#8243;][vc_column_text align=&#8221;center&#8221; css=&#8221;.vc_custom_1742823595069{margin-bottom: 0px !important;}&#8221;] InsightRP2 [\/vc_column_text][vc_column_text align=&#8221;center&#8221; css=&#8221;.vc_custom_1743065331305{margin-bottom: 0px !important;}&#8221;] Establishing novel therapeutic approaches for RP2-associated retinitis pigmentosa [\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner width=&#8221;2\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1743065362051{margin-bottom: 0px !important;}&#8221;]Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive deterioration of photoreceptors. RP affects about 1 in 4,000 persons worldwide and can be caused by [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":7782,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-14251","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>InsightRP2 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"InsightRP2 is a multimodular interdisciplinary project of the Wollnik research group that investigates the genetic causes, the underlying molecular mechanisms and novel therapeutic approaches for RP2-associated retinitis pigmentosa.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/research\/wollnik-research-group\/insightrp2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"InsightRP2 - 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