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Malattie del Metabolismo Rare (codice: 12092001)

 

Responsabile:  Prof. Giuseppe Novelli

Direttore: U.O.C. Laboratorio Genetica Medica

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Centro di Riferimento Regionale Malattia Rare

  • Presidio Regionale Sindrome di Marfan
  • Centro di Riferimento per Distrofia Miotonica di tipo 1 e 2
  • Centro di Riferimento per Sclerosi Laterale Amiotrofica)

 

Percorso Diagnostico Terapeutico Assistenziale

  • Sindrome di Marfan (con cardiochirurgia)
  • SLA (con neurologia)
  • DM1 (con neurologia)
  • DM2 (con neurologia)
  • Tumore del seno e della mammella (con senologia) Breast Unit in via di definizione

Con l’OPBG:

  • Difetti congeniti del metabolismo e del trasporto dei carboidrati escluso: diabete mellito (gruppo) - cod. Rcg060
  • Deficit congenito di lattasi - cod. Rcg060
  • Deficit di fruttosio-1,6-difosfatasi - cod. Rcg060
  • Difetti del trasporto del glucosio - cod. Rcg060
  • Difetto congenito di saccarasi-isomaltasi - cod. Rcg060
  • Galattosemia rcg060 glicogenosi - cod. Rcg060
  • Intolleranza ereditaria al fruttosio - cod. Rcg060
  • Malattia da corpi di poliglucosano - cod. Rcg060
  • Iperinsulinismi congeniti (gruppo) - cod. Rcg061
  • Iperinsulinismo congenito da deficit di glucochinasi - cod. Rcg061

 

Certificazioni: 

  • CEQ in Citogenetica – Due schemi distinti di diagnosi costituzionale: uno schema prenatale e uno schema postnatale 2020
  • CEQ in Genetica Molecolare – Due schemi distinti per la diagnosi molecolare di Fibrosi Cistica e Sindrome dell’ X-Fragile (schema completo) 2020
  • CEQ in Genetica Molecolare Oncologica -Tumore ereditario della mammella e dell’ovaio (geni BRCA1 e BRCA2) 2021
  • CEQ in Genetica Molecolare – Due schemi distinti per la diagnosi molecolare di Fibrosi Cistica e Sindrome dell’ X-Fragile (schema completo) 2021

 Brevetti internazionali

  • 2000: N. MI2000A 002041: “Metodo per la determinazione del Gene SMN1” filed on 19/09/2000. Italian. Y: no; LC:
  • 2004: N. MI2004A000251: “Production of a monoclonal antibody for UBE4A protein and its use in diagnostics”. Italian. Y: yes; LC: 1 (Abcam ).
  • 2005: WO /2005/080430 - Anti-ube4a/ufd2b polyclonal antibody and its use thereof as diagnostic and prognostic marker of 11q23 region alterations. International Application No.: PCT/IB2005/000305. Publication Data: 03.04.2006. International Filing Date: 08.02.2005. IPC: C07K16/40, G01N33/68, C07K16/00.
  • 2006: WO/2006/137101 - Alternative splicing isoform of LOX-I protein encoding gene, and uses thereof. International Application No.: PCT/IT2006/000470. Publication Date: 28.12.2006. International Filing Date: 20.06.2006. IPC: C12Q 1/68 (2006.01). Y: yes; LC:

 Publicazioni

  • Latini A, Novelli L, Ceccarelli F, Barbati C, Perricone C, De Benedittis G, et mRNA expression analysis confirms CD44 splicing impairment in systemic lupus erythematosus patients. Lupus 2021.
  • Caputo V, Strafella C, Termine A, Dattola A, Mazzilli S, Lanna C, et al. Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes. J Cell Mol Med 2020;24(23):13554-13563.
  • Fittipaldi S, Visconti VV, Tarantino U, Novelli G, Botta A. Genetic variability in noncoding RNAs: Involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis. Epigenomics 2020;12(22):2035-2049.
  • Nappo S, Mannucci L, Novelli G, Sangiuolo F, D'Apice MR, Botta Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis. Ann Hum Genet 2020;84(6):463-468.
  • Parlapiano G, Di Lorenzo F, Salehi LB, Ruvolo G, Novelli G, Sangiuolo Neurovascular manifestations in connective tissue diseases: The case of Marfan Syndrome. Mech Ageing Dev 2020;191.
  • Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, et Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network. Ital J Pediatr 2020;46(1).
  • Visconti VV, Fittipaldi S, Ciuffi S, Marini F, Isaia G, D’amelio P, et Circulating long non-coding rna gas5 is overexpressed in serum from osteoporotic patients and is associated with increased risk of bone fragility. Int J Mol Sci 2020;21(18):1-12.
  • Daneshjoo O, Salehi LB, Pizzuti A, Novelli G, Sangiuolo F. An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene. Clin Case Rep 2020;8(8):1445-1451.
  • Latini A, Borgiani P, De Benedittis G, D'Amato C, Greco C, Lauro D, et al. Mitochondrial DNA copy number in peripheral blood is reduced in type 2 diabetes patients with polyneuropathy and associated with a MIR499A gene polymorphism. DNA Cell Biol 2020;39(8):1467-1472.
  • Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, et al. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Front Genet 2020;11.
  • Novelli G, Novelli A, Borgiani P, Cocciadiferro D, Biancolella M, Agolini E, et WWP1 germline variants are associated with normocephalic autism spectrum disorder. Cell Death Dis 2020;11(7).
  • Caputo V, Strafella C, Termine A, Campione E, Bianchi L, Novelli G, et al. RNAseq-based prioritization revealed COL6A5, COL8A1, COL10A1 and MIR146A as common and differential susceptibility biomarkers for psoriasis and psoriatic arthritis: Confirmation from genotyping analysis of 1417 italian subjects. Int J Mol Sci 2020;21(8).
  • Ciccacci C, Latini A, Colantuono A, Politi C, D'Amato C, Greco C, et al. Expression study of candidate miRNAs and evaluation of their potential use as biomarkers of diabetic neuropathy. Epigenomics 2020;12(7):575-585.
  • Novelli G, Biancolella M, Latini A, Spallone A, Borgiani P, Papaluca M. Precision medicine in non- communicable diseases. High Throughput 2020;9(1).
  • Centofanti F, Santoro M, Marini M, Visconti VV, Rinaldi AM, Celi M, et al. Identification of aberrantly- expressed long non-coding rnas in osteoblastic cells from osteoporotic patients. Biomedicines 2020;8(3).
  • Mannucci L, Luciano S, Salehi LB, Gigante L, Conte C, Longo G, et al. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. Clin Chim Acta 2020; 501:154-164.
  • Tiano F, Amati F, Cherubini F, Morini E, Vancheri C, Maletta S, et Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival. Hum Mol Genet 2020;29(3):471-482.
  • Von Schnurbein J, Adams C, Akinci B, Ceccarini G, D'Apice MR, Gambineri A, et al. European lipodystrophy registry: Background and structure. Orphanet J Rare Dis 2020;15(1).
  • Biancolella M, Testa B, Baghernajad Salehi L, D'Apice MR, Novelli Genetics and Genomics of Breast Cancer: update and translational perspectives. Semin Cancer Biol 2020.
  • Solano A, Novelli G, Baghat S, Carnici P, van Ommen G-, Reichardt JKV. Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea. Eur J Hum Genet 2020;28(1):122-125.
  • D'Apice MR, De Dominicis A, Murdocca M, Amati F, Botta A, Sangiuolo F, et al. Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome. Acta Myologica 2020;39(4):320-335.
  • Fontana L, Santoro M, D'Apice MR, Peluso F, Gori G, Morrone A, et al. Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family. Acta Myologica 2020;39(1):13-18.
  • Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, et The variability of SMCHD1 gene in FSHD patients: Evidence of new mutations. Hum Mol Genet 2019;28(23):3912-3920.
  • Guerra L, Bergamo F, D’Apice MR, Angelucci F, Di Girolamo S, Camerota L, et al. Keratoderma- deafness-mucocutaneous syndrome associated with phe142leu in the GJB2 Acta Derm -Venereol 2019;99(12):1192-1194.
  • Strafella C, Caputo V, Pagliaroli G, Iozzo N, Campoli G, Carboni S, et al. Ngs analysis for molecular diagnosis of retinitis pigmentosa (Rp): Detection of a novel variant in prph2 Genes 2019;10(10).
  • Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, et Genotypic categorization of loeys-dietz syndrome based on 24 novel families and literature data. Genes 2019;10(10).
  • Rizzacasa B, Amati F, Romeo F, Novelli G, Mehta JL. Epigenetic Modification in Coronary Atherosclerosis: JACC Review Topic of the Week. J Am Coll Cardiol 2019;74(10):1352-1365.
  • Murdocca M, Capuano R, Pucci S, Cicconi R, Polidoro C, Catini A, et al. Targeting LOX-1 inhibits colorectal cancer metastasis in an animal model. Front Oncol 2019;9(SEP).
  • Latini A, Spallone V, D’Amato C, Novelli G, Borgiani P, Ciccacci A common polymorphism in MIR155 gene promoter region is associated with a lower risk to develop type 2 diabetes. Acta Diabetol 2019;56(6):717-718.
  • Rizzacasa B, Morini E, Mango R, Vancheri C, Budassi S, Massaro G, et al. MiR-423 is differentially expressed in patients with stable and unstable coronary artery disease: A pilot study. PLoS ONE 2019;14(5).
  • Pucci S, Greggi C, Polidoro C, Piro MC, Celi M, Feola M, et al. Clusterin silencing restores myoblasts viability and down modulates the inflammatory process in osteoporotic disease. J Transl Med 2019;17(1).
  • Strafella C, Errichiello V, Caputo V, Aloe G, Ricci F, Cusumano A, et al. The interplay between mirna- related variants and age-related macular degeneration: Evidence of association of mir146a and mir27a. Int J Mol Sci 2019;20(7).
  • Perricone C, Ciccacci C, Ceccarelli F, Cipriano E, Latini A, Novelli G, et Genetics and Autoimmunity: Recent News. Mosaic of Autoimmunity: The Novel Factors of Autoimmune Diseases; 2019. p. 93-104.
  • Pucci S, Polidoro C, Greggi C, Amati F, Morini E, Murdocca M, et Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes. Cell Death Dis 2019;10(2).
  • Colafrancesco S, Ciccacci C, Priori R, Latini A, Picarelli G, Arienzo F, et STAT4, TRAF3IP2, IL10, and HCP5 Polymorphisms in Sjögren's Syndrome: Association with Disease Susceptibility and Clinical Aspects. J Immunol Res 2019;2019.

 

Progetti di ricerca :

  • Sviluppo di un prototipo cellulare basato su hiPSCs per lo studio di anticorpi monoclonali sintetici che neutralizzano l'infezione da SARS-Cov-2 (STEMCOmAb), MIUR. Bando FISR2020 (2021- )
  • GeCoBioMark. Sviluppo, Caratterizzazione, e Validazione di test predittivi di suscettibilità genetica al COVID-19. POR-FESR Lazio (2021-2023)
  • Synthetic Antibodies neutralize Sars-CoV-2 infection of mammalian cells, Fondazione Roma (2020-2024)
  • Undiagnosed Rare Diseases: a joint Italy - USA project (Progetto in Collaborazione con ISS)

 

 

 

Associazioni specializzate:

SMA atrofia muscolare spinale--> www.asamsi.org

DM distrofia muscolare--> www.dimio.it

Fondazione Ricerca FC fibrosi cistica--> www.fibrosicisticaricerca.it            

Sindrome di Marfan--> www.marfan.info

Network italiano laminopatie--> www.igm.cnr.it/laminopatie

 

 

 

Segreteria: 

  • Dott.ssa Barbara Patarini 
  • Dott.ssa Francesca Pisanu
  • Sig.ra Francesca Piervirgili

 

Unit Genetica Molecolare

  • Prof.ssa Federica Carla Sangiuolo

 

Equipe di Ambulatorio di Genetica Medica:

  • Dr. Bengala Mario
  • Dr.ssa Baghernajad Salehi Leila

 

Equipe di Laboratorio di Citogenetica

  • Dr.ssa Nardone Anna Maria
  • Dr.ssa Di Rosa Cristiana

 

Equipe di Laboratorio di Genetica Molecolare:

  • Prof.ssa Michela Biancolella
  • Dr.ssa D'Apice Maria Rosaria
  • Dr.ssa Mannucci Liliana
  • Dr. Gravina Paolo
  • Dr.ssa Liberatoscioli Laura

 

 

 

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