{"id":762,"date":"2024-06-21T08:57:03","date_gmt":"2024-06-21T06:57:03","guid":{"rendered":"https:\/\/www.associazionefedericosecondo.eu\/genetica-medica\/"},"modified":"2024-10-09T09:49:56","modified_gmt":"2024-10-09T07:49:56","slug":"medical-genetics","status":"publish","type":"page","link":"https:\/\/www.associazionefedericosecondo.eu\/en\/medical-genetics\/","title":{"rendered":"Medical genetics"},"content":{"rendered":"\t\t
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MEDICAL GENETICS<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Medical genetics is the application of genetics to medical care, including research into the genetic causes and inheritance of genetic and\/or complex diseases, as well as their diagnosis and management.<\/p>\n

In the laboratory of Prof. Francesca Mari, in-depth analysis of the genetic profile of patients affected by chronic lymphocytic leukemia (CLL) is performed, at different stages of the disease. The project aims to identify complete and detailed genetic profiles of CLL and study new molecular markers that guide its development and refractoriness. The aim is to provide new treatment opportunities for the patient by improving life expectancy and quality of life, and at the same time reducing healthcare costs. This is achieved using cutting-edge technological tools for exome sequencing (WES), to identify new constitutive and somatic mutations that contribute to the development and progression of tumors. All analyses are performed using dedicated software and bioinformatics systems.<\/p>\n

Use of next-generation sequencing for the study of rare genetic diseases, especially in the field of neurodevelopmental diseases.<\/p>\n

Furthermore, given the importance of the application of next-generation sequencing analysis in the postnatal setting for the diagnosis of genetic anomalies, another goal we have set ourselves is to apply these technologies also in the prenatal setting for the study of nonspecific fetal anomalies, such as isolated increased translucency and early-onset intrauterine growth restriction, in order to obtain elements capable of predicting fetal prognosis and guiding the couple in the decision-making process. All this will allow us to acquire important ideas for the definition of guidelines in fetal diagnostics.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Active projects<\/strong><\/h4>\n

HEALTH RESEARCH CALL 2018
Title: “Development of personalized diagnosis and innovative therapies for resistant CLL”
<\/strong>Duration: 36 mesi
Coordinator: Prof.ssa Cosima Baldari (PI)<\/p>\n

EU funding within the NextGenerationEU-MUR PNRR Tuscany Health Ecosystem (Project no ECS00000017-THE)\u00a0
Title: Spoke 7 – “Translational Medicine”
<\/strong>Duration: 2022-2025
Coordinator Spoke 7 – UNISI: Luisa Bracci
UNISI PI: Francesca Mari – Director of Research Unit – Partner<\/p>\n

EU funding within Centro Nazionale di Ricerca
Sviluppo di Terapia Genica e Farmaci con Tecnologia a RNA CN3 – Spoke 2 “Cancer”<\/strong>
Duration: 2022-2025
Coordinator Spoke 2 “Cancer” – UNISI: Francesco Dotta
UNISI PI: Francesca Mari – Director of Research Unit – Partner<\/p>\n

PRIN 2022 (Ministero dell\u2019Universit\u00e0 e della Ricerca)
Title: “Genetic and clinical study in fetuses with nonspecific signs of increased risk in the first and second trimester for prognostic and informational purposes”
<\/strong>Durata: 2023-2025
Progetto multicentrico
Coordinator: Prof.ssa Francesca Mari (PI)<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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MEDICAL GENETICS Medical genetics is the application of genetics to medical care, including research into the genetic causes and inheritance […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"","ast-site-content-layout":"full-width-container","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-762","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/pages\/762","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/comments?post=762"}],"version-history":[{"count":8,"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/pages\/762\/revisions"}],"predecessor-version":[{"id":786,"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/pages\/762\/revisions\/786"}],"wp:attachment":[{"href":"https:\/\/www.associazionefedericosecondo.eu\/en\/wp-json\/wp\/v2\/media?parent=762"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}