Laboratory of Functional Human Genomics

Staff: Fortugno Paola, Quattrini Chiara

The functional human genomics laboratory studies the genetic basis of human diseases with special reference to chronic degenerative diseases with high impact in rehabilitation such as neurodegenerative and cardiovascular diseases. Researchers are working to identify new disease-genes and molecular pathways to improve the care and personalize rehabilitation and treatment of people with diseases with a high genetic component. Mendelian and genomic diseases as well as predominantly neurodegenerative diseases caused by polynucleotide expansion in noncoding sequences of the genome are the subject of research. The aim is to identify new molecular markers that will allow defining individual susceptibility and different response to pharmacological, therapeutic, and nutritional treatments. These markers are the tool for developing individualized diagnostic-therapeutic and rehabilitation protocols for predictive and personalized medicine.

Research Interests

Molecular bases of human diseases
Rare multi-organ diseases
Genetically based neurodevelopmental disorders
Genomic testing based on new DNA sequencing technologies
Noncoding genome: new mechanisms of disease

Publications

Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. Eur J Hum Genet. 2023 May;31(5):596-601.

Bouassida M, Egloff M, Levy J, Chatron N, Bernardini L, Le Guyader G, Tabet AC, Schluth-Bolard C, Brancati F, Giuffrida MG, Dard R, Clorennec J, Coursimault J, Vialard F, Hervé B. 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. Eur J Hum Genet. 2023 May 15. doi: 10.1038/s41431-023-01379-9. Online ahead of print.

Corbett MA, Depienne C, Veneziano L, Klein KM, Brancati F, Guerrini R, Zara F, Tsuji S, Gecz J. Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions. Epilepsy. 2023 Jun;64 Suppl 1:S14-S21.

Caroselli S, Figliuzzi M, Picchetta L, Cogo F, Zambon P, Pergher I, Girardi L, Patassini C, Poli M, Bakalova D, Cimadomo D, Findikli N, Coban O, Serdarogullari M, Favero F, Bortolato S, Anastasi A, Capodanno F, Gallinelli A, Brancati F, Rienzi L, Ubaldi FM, Jimenez-Almazán J, Blesa-Jarque D, Miravet-Valenciano J, Rubio C, Simòn C, Capalbo A. Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses. Hum Reprod. 2023 Apr 3;38(4):762-775.

Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. The different clinical facets of SYN1-related neurodevelopmental disorders. Front Cell Dev Biol. 2022 Dec 8;10:1019715.

Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG, Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce P, Teson M, Ricci F; Italian Undiagnosed Diseases Network, Macchiarelli G, Didona B, Costanzo A, Castiglia D, Brancati F. RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis. Hum Mol Genet. 2022 Aug 17;31(15):2535-2547.

Asif M, Kaygusuz E, Shinawi M, Nickelsen A, Hsieh TC, Wagle P, Budde BS, Hochscherf J, Abdullah U, Höning S, Nienberg C, Lindenblatt D, Noegel AA, Altmüller J, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Tinschert S, Samra NN, Savatt JM, Rudy NL, De Luca C; Italian Undiagnosed Diseases Network, Paola Fortugno, White SM, Krawitz P, Hurst ACE, Niefind K, Jose J, Brancati F, Nürnberg P, Hussain MS. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Adv. 2022 Apr 18;3(3):100111.

Hirsch N, Dahan I, D’haene E, Avni M, Vergult S, Vidal-García M, Magini P, Graziano C, Severi G, Bonora E, Nardone AM, Brancati F, Fernández-Jaén A, Rory OJ, Hallgrímsson B, Birnbaum RY. HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations. Genome Res. 2022 Jul;32(7):1242-1253.

Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C; Italian Undiagnosed Diseases Network, Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. HGG Adv. 2021 Nov 25;3(1):100072.

Castelletti S, Zorzi A, Ballardini E, Basso C, Biffi A, Brancati F, Cavarretta E, Crotti L, Contursi M, D’Aleo A, D’Ascenzi F, Delise P, Dello Russo A, Gazale G, Mos L, Novelli V, Palamà Z, Palermi S, Palmieri V, Patrizi G, Pelliccia A, Pilichou K, Romano S, Sarto P, Schwartz PJ, Tiberi M, Zeppilli P, Corrado D, Sciarra L. Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology. Int J Cardiol. 2022 Oct 1;364:169-177.

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