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个人简介
Prof. Alessandra Renieri is an expert clinical geneticist leading one of the biggest Medical Genetics center in Italy at University Hospital in Siena offering genetic counselling, genetic test and gene editing for rare diseases and genetic cancers. She has a long experience in rare diseases including syndromic and non-syndromic intellectual disabilities (ID), with a special focus on Rett syndrome, and other conditions including Alport syndrome, retinoblastoma and other rare cancers. She is Health Care Provider representative/subrepresentative of several European Reference Networks (ERNs) including ITHACA, ERKnet, PAEDCAN, EURObloodNet, EURACAN. In the pre-genomic era, she contributed to map and cloning several genes including those of ocular albinism, FACL4 and other X-linked mental retardation genes. Her laboratory is a referral center for Rett in Italy and, since 2009, she coordinates the international Rett database network (http://www.rettdatabasenetwork.org). In the post-genomic era the research focus was on microdeletion syndromes first and digenic diseases then. In 2010, she started to model Rett syndrome spectrum (MECP2, CDKL5 and FOXG1) with iPSC-derived neurons. In the field of cancer, she has been involved in cancer genetics for many years, in particular about retinoblastoma, breast, colon and lung cancer. Her laboratory was among the first in Italy to introduce the use of NGS for “liquid biopsy” as an innovative diagnostic and prognostic technique in cancer allowing the early detection of cancer as well as dynamic monitoring of cancer growth and resistance to treatment with important implications for “personalized medicine”. Since 2017 her research interest is focused on gene editing using crispr systems and its translation to clinical practice. Currently, she is running four gene editing projects. Three are using Crispr/Cas9 and AAV system and are related to Rett syndrome (FOXG1 and CDKL5 related variants), Parkinson (LRRK2 and GBA) and Alport syndrome (COL4A5). One is using Crispr/Cpf1 and lentiviral vector and it is related to Chronic Lymphocytic Leukemia and other TP53-mutated cancers. Renieri is inventor of the following patents:
-“Sistema CRISPR-Cas per l’editing genomico” (Patent application N° 102018000009431) for the employment of CRISPR/Cpf1 technology for specific delivery of suicide gene in cancer cells mutated in TP53. October 15, 2018. By Renieri A, Conticello S, Donati F, Niccheri F, Mari F, Papa FT, Lorenzetti FC.
-“CRISPR-Cas system for gene therapy” (Patent application N° 102018000020230) for the use of CRISPR/Cas9 technology in rare genetic diseases (19/12/2018). International patent application n. PCT/EP2019/085659 (17/12/2019). By Renieri A, Conticello S, Pinto AM, Meloni I, Daga S, Donati F, Croci S, Lopergolo D. This is a platform of patents for gene editing in:
1. Alport syndrome
2. Rett syndrome due to MECP2 mutations
3. CDKL5 disorder
4. Pompe disease
5. FOXG1 syndrome
She is coordinating the Human Genomics platform within the MedBiotech Hub & Compete Center; it is equipped with High Throughput Sequencing facilities for next generation sequencing (NGS): Targeted-NGS, Whole-genome sequencing, Whole-exome sequencing, RNA sequencing, miRNA sequencing on two Life Technologies’ platform (Ion Torrent S5 and Ion Torrent Proton) and three Illumina platforms (MiSeq, NetxSeq550 and NovaSeq6000 System). In 2017 she was elected coordinator of Network for Italian Genomes NIG (www.nig.cineca.it). Genetics”. Research activities of Prof. Alessandra Renieri are substantiated by 332 original articles in international peer-reviewed journals with an H index of 55 (Scopus). She is author of 6 book chapters, 9 reviews made by request, one N&V in Nat Genet . She was a reviewer for Internationsl Journals, among which American Journal of Human Genetics, American Journal of Medical Genetics, BMC Medical Genetics, Clinical Chemistry, Clinical Genetics, European Journal of Human Genetics, Journal of Endocrinology, Journal of Medical Genetics, Journal of Nephrology, Nature Genetics, Nephron, Pediatric Nephrology. Prof. Alessandra Renieri heads the GEN-COVID consortium, a network of more than 40 Italian Hospitals, 16 Continuity Assistance Special Unit (USCA) and 8 Departments of Preventive Medicine of the University of Siena in Italy. Physicians of several specialties from Infectious Diseases to Anesthesiology, Respiratory Diseases, Cardiology, Rheumatology, Neurology ENT specialty and Medical Genetics will prove the basis for a detailed patient Registry and Biobank of samples. The network started its activity on March 16, 2020 after IRB approval and since then more than 3000 patients have been collected and sequenced, in order to develop a genetic-based approach to understand the clinical variability of COVID-19 public health emergency. The GEN-COVID study is connected with the HGI Human Genetic Iniziative (https://www.covid19hg.org).
研究兴趣
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FRONTIERS IN GENETICS (2024): 1362469-1362469
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 130-130
Aniket Bhattacharya,Paola Parlanti,Luca Cavallo, Edward Farrow, Tyler Spivey,Alessandra Renieri,Francesca Mari,M. Chiara Manzini
HUMAN MOLECULAR GENETICS (2024)
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 134-134
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 133-133
European journal of human genetics : EJHGno. 1 (2024): 130-130
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