Laura Crisponi

Head of Research

Area of interest:

Laura Crisponi is Head of Research at the IRGB CNR in Monserrato (CA), Italy. She graduated in Biological Sciences in Cagliari, Italy, in 1995, obtained a specialization in Medical Genetics at the University La Sapienza of Rome in 2012 and a doctorate in Medical Genetics at the University of Sassari, Italy in 2020.
Since the beginning of her research activity, she has been working in the field of molecular and medical genetics, to identify the molecular bases of rare genetic disorders and the underlying physiopathological mechanisms, to find knowledge-based therapeutic and pharmacological interventions.
Dr Crisponi led projects that brought to the discovery of genes, in particular, FOXL2 and CRLF1, implicated respectively in the Blepharophimosis/Ptosis and Epicanthus inversus (BPES) -associated with primary ovarian insufficiency- and the Crisponi/Cold Induced Sweating (CS/CISS1) syndromes. These findings were followed by ongoing functional studies of their encoded proteins through molecular and cellular assays and the generation and characterization of mouse models for the disorders under study.
From 2006 to 2016, Dr Crisponi has been co-investigator of the ProgeNIA/SardiNIA project, funded by the National Institute on Aging/National Institutes of Health, (NIA/NIH) in Baltimore (USA), which aims to identify the genetic components associated with ageing and conditions of more general biomedical interest in the Sardinian population, taking advantage of new “-omic” analysis technologies extended to the entire genome and transcriptome, associated with accurate bioinformatics and biology analysis.  As a co-investigator within the SardiNIA project, she dealt with both organizational and scientific aspects. In particular, given the interest deriving from the previous studies, she coordinated the contribution of SardiNIA to GWAS meta-analysis studies concerning the identification of variants associated with females reproductive ageing-related traits such as age at menarche and menopause.
Since 2012 Dr Crisponi has been working on projects aimed at dissecting the genetic basis of rare disorders by next-generation sequencing technologies (NGS), in particular, the whole-exome sequencing approach.
In all these years she has also been involved in tutoring students both for doctoral thesis and school visits, as well as serving as an editorial board member, guest associate editor or reviewer for different journals.
She has authored or co-authored several publications in peer-reviewed journals which have contributed to significant advances in understanding the molecular bases of rare disorders and the underlying physiopathological mechanisms, and in providing diagnostic tools, therapeutic and pharmacological interventions.

Most significant publications:


Buers, I.; Persico, I.; Schöning, L.; Nitschke, Y.; Di Rocco, M.; Loi, A.; Sahi, P. K.; Utine, G. E.; Bayraktar-Tanyeri, B.; Zampino, G.; Crisponi, G.; Rutsch, F.; Crisponi, L.

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts Journal Article

In: Clin Genet, 97 (1), pp. 209–221, 2020.

Abstract | BibTeX


Perry, J. R.; Day, F.; Elks, C. E.; Sulem, P.; Thompson, D. J.; Ferreira, T.; He, C.

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche Journal Article

In: Nature, 514 (7520), pp. 92–97, 2014.

Abstract | BibTeX


Stolk, Lisette; Perry, John R B; Chasman, Daniel I; He, Chunyan; Mangino, Massimo; Sulem, Patrick; Barbalic, Maja; Broer, Linda; Byrne, Enda M; ...,; Sanna, Serena; Schlessinger, David; Spector, Tim D; Stefansson, Kari; Streeten, Elizabeth A; Thorsteinsdottir, Unnur; Uda, Manuela; Uitterlinden, André G; van Duijn, Cornelia M; Völzke, Henry; Murray, Anna; Murabito, Joanne M; Visser, Jenny A; Lunetta, Kathryn L

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways Journal Article

In: Nature Genetics, 44 (3), pp. 260–268, 2012, ISSN: 1546-1718.

Abstract | Links | BibTeX


Crisponi, Laura; Crisponi, Giangiorgio; Meloni, Alessandra; Toliat, Mohammad Reza; Nurnberg, Gudrun; Usala, Gianluca; Uda, Manuela; Masala, Marco; Hohne, Wolfgang; Becker, Christian; Marongiu, Mara; Chiappe, Francesca; Kleta, Robert; Rauch, Anita; Wollnik, Bernd; Strasser, Friedrich; Reese, Thomas; Jakobs, Cornelis; Kurlemann, Gerd; Cao, Antonio; Nurnberg, Peter; Rutsch, Frank

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Journal Article

In: Am J Hum Genet, 80 (5), pp. 971–981, 2007, ISSN: 0002-9297 0002-9297.

Abstract | Links | BibTeX


Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development Journal Article

In: Hum Mol Genet, 13 (11), pp. 1171–1181, 2004.

Abstract | BibTeX


Crisponi, L.; Deiana, M.; Loi, A.; Chiappe, F.; Uda, M.; Amati, P.; Bisceglia, L.; Zelante, L.; Nagaraja, R.; Porcu, S.; Ristaldi, M. S.; Marzella, R.; Rocchi, M.; Nicolino, M.; Lienhardt-Roussie, A.; Nivelon, A.; Verloes, A.; Schlessinger, D.; Gasparini, P.; Bonneau, D.; Cao, A.; Pilia, G.

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Journal Article

In: Nat Genet, 27 (2), pp. 159–166, 2001.

Abstract | BibTeX