Skip to main content

Mónica Fernández Cancio

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.

123 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, Nuria Camats Tarruella, Mónica Fernández Cancio

Normal Growth and development pattern in children.

123 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: Antonio Carrascosa Lezcano, Mónica Fernández Cancio

Projects

Identificación y caracterización de mecanismos moleculares implicados en las Anomalías de la Diferenciación Sexual (ADS) mediante la aplicación de técnicas de secuenciación masiva y aCGH

IP: Mónica Fernández Cancio
Collaborators: -
Funding agency:
Funding:
Reference: PR(IR)16/2016
Duration: -

Marcadores moleculares de la acción de los andrógenos: aplicaciones básicas al conocimiento de la regulación de la diferenciación sexual y diagnósticas en el pseudohermafroditismo masculino

IP: -
Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Mónica Fernández Cancio
Funding agency: Instituto de Salud Carlos III
Funding: 125840
Reference: PI060903
Duration: 01/01/2007 - 31/12/2010

Efectos de los glucocorticoides sobre la proliferación y expresión génica de receptores, factores de crecimiento y de transcripción en condrocitos humanos en cultivo

IP: -
Collaborators: Mónica Fernández Cancio
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: BEFI 02/9149
Duration: 29/09/2002 - 03/01/2007

Related news

Es va reconèixer la tasca de més de 70 professionals dedicades a aquesta malaltia pulmonar, tant assistencial com de recerca.

The two studies awarded has been the research for a the ciliary dyskinesia diagnosis led by the VHIR’s Growth and Development Group and the EPISCAN II, in which Dr. Miravitlles has participated.

An international clinical trial has demonstrated the effectiveness of dupilumab in reducing patients’ asthmatic exacerbations, improving their and their relatives quality of life

Related professionals

Nuria  Servalls Rozas

Nuria Servalls Rozas

Growth and Development
Read more
Karina Alicia Gonzalez

Karina Alicia Gonzalez

Research technician
Growth and Development
Read more
Ariadna Campos Martorell

Ariadna Campos Martorell

Growth and Development
Read more
Pamela Patricia Yesquen Salcedo

Pamela Patricia Yesquen Salcedo

Research technician
Growth and Development
Read more

Subscriu-te als nostres butlletíns i forma part de la vida del Campus

El Vall d’Hebron Barcelona Hospital Campus és un parc sanitari de referència mundial on assistència, recerca, docència i innovació es donen la mà.