Mónica Fernández Cancio Institutions of which they are part Senior researcher Growth and Development Vall Hebron Institut de Recerca Email Mónica Fernández Cancio Email Institutions of which they are part Senior researcher Growth and Development Vall Hebron Institut de Recerca
Research lines Endocrine pediatric rare diseases: Disorders of sex development (DSD), growth delay, thyroid dyshormonogenesis, familial isolated glucocorticoid deficiency and congenital hyperinsulinism. 4.1 Disorders of sex development (DSD): clinical and molecular diagnosis. We analyse known genes involved in human sexual differentiation and search for new genes. 4.2 Program of molecular diagnosis of thyroid dyshormonogenesis in patients with hypothyroidism which have been diagnosed at the newborn screening program. The objective of this project is to advance in the identification and characterization of the molecular basis of the patients with thyroid dyshormonogenesis through the implementation of next generation sequencing techniques (NGS) to later translate these results to the routine diagnosis of the detected patients in the program of Neonatal Screening of Congenital Hypothyroidism. Our group is reference centre for Catalonia. 4.3 Familial isolated glucocorticoid deficiency: clinical and molecular diagnosis. We analyse known genes involved in familial isolated glucocorticoid deficiency and search for new genes. 4.4 Congenital hyperinsulinism: clinical and molecular diagnosis. We analyse known genes involved in congenital hyperinsulinism and search for new genes. IP: Diego Yeste Fernandez, Maria Clemente Leon, Monica Fernandez Cancio Normal Growth and development pattern in children. Longitudinal study of growth 1995-2017. Longitudinal studies of growth require a very long follow-up period, about 20 years, but they allow to correctly evaluate pubertal growth by providing differentiated data for children who initiate pubertal maturation at an early, intermediate or late time. In this study, 1,453 healthy non-obese subjects (743 women, 710 males) who reached adult height between January 2012 and January 2017 were included, which allowed the development of height, weight and body mass index charts, with the particularity of including separated charts for the different phenotypes of pubertal maturation (very early, early, intermediate, late and very late). This allows a much more accurate assessment of pubertal growth. In addition to the publication of the results, a website "Millennials Growth. Longitudinal growth study 1995-2017", which includes the growth charts performed with the LMS method, an auxologic calculation program for health professionals, and two Apps (Android and iOS) has been developed. This will allow their use by all health professionals and we believe it will be a very valuable tool for the assessment and monitoring of normal and pathological growth in children. IP: Monica Fernandez Cancio Projects Creixement i Desenvolupament IP: Antonio Moreno Galdó Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Félix Castillo Salinas, Monica Fernandez Cancio, Inés de Mir Messa, Ariadna Campos Martorell, Sandra Rovira Amigo, Alba Torrent Vernetta, Ana Díez Izquierdo, Noelia Baz Redón, SILVIA GARTNER TIZZANO Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 00779 Duration: 01/01/2022 - 30/06/2025 Endocrinologia Pediàtrica (GRC) IP: - Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Monica Fernandez Cancio, Ariadna Campos Martorell Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: Reference: 2014 SGR 1302 Duration: 01/01/2014 - 31/12/2017 Fisiopatologia del Creixement IP: - Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Monica Fernandez Cancio Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 47840 Reference: 2009 SGR 31 Duration: 01/01/2010 - 30/04/2014 CIBER Enfermedades raras (CIBERER) IP: - Collaborators: Monica Fernandez Cancio Funding agency: CIBER Enfermedades Raras Funding: Reference: CB06/07/0063 Duration: 01/01/2007 - 31/12/2010 Pagination Current page 1 Page 2 Next page › Last page »
