A Rossi/A Forlino

A Rossi/A Forlino

Rossi Forlino Image 2

Group Members

Antonio Rossi
(Head of the cartilage group)

Antonella Forlino
(Head of the bone group)

Roberta Besio
(senior post-doctoral fellow)

Roberta Gioia
(senior post-doctoral fellow)

Luca Monti
(post-doctoral fellow)

Rossella Costantini
(PhD student)

Silvia Maruelli
(PhD student)

Chiara Paganini
(PhD student)

Francesca Tonelli
(PhD student)


Heritable skeletal disorders (HSDs)

Heritable skeletal disorders (HSDs) belong to the family of connective tissue diseases and represent a distinct group of over 450 rare genetic disorders that primarily affect the development and homeostasis of the skeleton. HSDs are congenital, chronic, often life-threatening and they severely affect the quality of life of the patients and their families. They are also associated with extensive and expensive health care needs, that increase with disease progression. Unfortunately, for HSDs in general no resolutive treatments are available beyond general disease management measures, in part due to the clinical and genetic heterogeneity of HSDs and to a poor understanding of underlying mechanisms.

Our research group is focused on the investigation of the skeletal structure and properties in health and heritable diseases with the final aim to identify novel targets for innovative therapies. Both in vitro (primary cells from patients and animal models) and in vivo (zebrafish and mouse) models are generated and characterized by biochemical, molecular, histological and imaging approaches.

The research lines ongoing in our laboratory are:

  1. deep characterization of dominant and recessive form of the bone diseases, mainly focusing on the heritable disease osteogenesis imperfecta;
  2. deep phenotyping of cartilage disorders caused by defects in proteoglycan biosynthesis;
  3. identification of novel pharmacological targets to treat various skeletal dysplasias;
  4. developing of innovative gene therapy approach to treat bone diseases.

Selected Papers

1: Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A. Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin, Sci Rep. 2016 Feb 15;6:21540

2: Bianchi L, Gagliardi A, Maruelli S, Besio R, Landi C, Gioia R, Kozloff KM, Khoury BM, Coucke PJ, Symoens S, Marini JC, Rossi A, Bini L, Forlino A. Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta. Hum Mol Genet. 2015 ;24(21):6118-33

3: Monti L, Paganini C, Lecci S, De Leonardis F, Hay E, Cohen-Solal M, Villani S, Superti-Furga A, Tenni R, Forlino A, Rossi A. N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. Hum Mol Genet. 2015;24(19):5570-80.

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