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leaD reSearcHer
Carrascosa, Antonio
Fundación Hospital Universitario Vall d’Hebron - Institut de Recerca (VHIR) Hospital Vall d’Hebron Passeig Vall d’Hebron, 119-129 08035 Barcelona
(+34) 93 489 30 63 (+34) 93 489 40 30
[email protected]
group website
GROUP MEMBERS
Staff members: Camats Tarruella, Nuria | Fernández Cancio, Mónica
Associated members: Audi Parera, Laura | Clemente León, María | Yeste Fernández, Diego
Main lines of research
• Growth patterns and body mass index (BMI) from birth to adult height in a non-obese healthy population from Barcelona (743 women and 710 men, more than 25000 anthropometric measurements). Longitudinal study of growth 1995-2017. Preparation of apps, a webpage and an auxological programme.
• Optimization of the patients’ treatment with growth hormone.
• Genetic regulation of growth in control an delayed growth populations: genes GH1, GHR, GHRHR, IGF-1,
IGF1R, IGF2, NPR2, IGFALS, STAT5B, CCDC8, GHSR, SHOX.
• Genes involved in human sex differentiation: AR, SRD5A2, HSD17B3, CYP17A1, CYP19A1, StAR, NR5A1,
MAMLD1, GATA4, LHCGR, CYP11A1, WT1, NR0B1, SRY. Search of new genes.
• Genes involved in congenital isolated glucocorticoid deficiency: genes MC2R, MRAP, StAR, CYP11A1,
MCM4, NR0B1, CYP17A1, NR5A1, NNT, TXNRD2.
• Epidemiological and genetic factors involved in raquitism. Genes VDR, MC1R, TYR1, TYRP1-1, TYRP1-2,
OCA2-1, OCA2-2, SLC45A2-1, SLC45A2-2, SLC24A5-1, KITLG-1.
• Genes involved in thyroid disorders: genes TG, TSHR, PAX8, SLC26A4, SLC5A5, TPO, DUOX2, DUOXA2,
IYD, NKX2-5, NKX2-1, FOXE1, ANO1, GNAS.
• Genes involved in congenital hyperinsulinism: genes HADH, KCNJ11, SLC16A1, GCK, HNF4A, GLUD1,
HNF1A, ABCC8, UCP2.
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PROGRAMMES
Endocrine Medicine