Genetics and cell biology

Pediatric endocrinology

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Group leader

Stefano Mora

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The research activity of this group is focused on molecular definition of rare genetic disorders, and on the pathophysiology of the skeletal development. Pediatric endocrinology Unit has two main research focus: understanding the molecular causes responsible for endocrinological diseases of childhood, and studying the pathophysiology of bone mass acquisition.

Research activity

Genetics of pediatric endocrine diseases.
Several endocrine pediatric diseases have very clear and specific genetic causes. This unit, in collaboration with several Pediatric and Endocrine Units, is involved in the definition of the molecular defects of some rare endocrine disorders, as congenital hypothyroidism, hypophosphatemic rickets, hypoparathyroidism, and hypophosphatasia.

Physiopathology of skeletal development.
Osteoporosis has its antecedents during infancy and adolescence. Bone mass increases markedly during growth, and it reaches a peak at the end of the second decade (peak bone mass). Reaching an optimal peak bone mass is a recognized pivotal key factor in the prevention of osteoporosis. Nevertheless, the factors regulating the skeletal metabolism during the acquisition of peak bone mass are largely unknown. This group has a long standing record in these field of research, particularly in the definition of normal physiology of bone mass acquisition, and on bone mass alterations in chronic pediatric diseases (i.e. celiac disease, HIV infection).