Skip to main content

Maria Clemente Leon

Institutions of which they are part

Growth and Development
Vall Hebron Institut de Recerca

Maria Clemente Leon

Institutions of which they are part

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, Nuria Camats Tarruella, 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, Nuria Camats Tarruella, 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: Antonio Carrascosa Lezcano
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: Antonio Carrascosa Lezcano
Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Monica Fernandez Cancio, Nuria Camats Tarruella
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 47840
Reference: 2009 SGR 31
Duration: 01/01/2010 - 30/04/2014

Estudio funcional de nuevas mutaciones en el gen GH1 en una población de 728 pacientes con retraso crónico de crecimiento secundario a deficiencia de GH o a GH con actividad biológica disminuida y buena respuesta clínica al tratamiento con GH

IP: Antonio Carrascosa Lezcano
Collaborators: Maria Clemente Leon
Funding agency: Instituto de Salud Carlos III
Funding: 148830
Reference: PI07/0145
Duration: 01/01/2008 - 30/12/2011

Related news

The study, in which Vall d'Hebron participates, helps to understand the variability among patients with retinitis pigmentosa.

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.

Related professionals

Marc Simo Perdigo

Marc Simo Perdigo

Molecular Medical Imaging
Read more
Joaquim Sola  Santesmases

Joaquim Sola Santesmases

Zelador/a
General Services and Infrastructure
Manager
Read more
Javier Domeño Baztán

Javier Domeño Baztán

Research technician
Clinical Neuroimmunology
Read more
Thais Cuadros Arasa

Thais Cuadros Arasa

Postdoctoral researcher
Neurodegenerative Diseases
Read more

Subscribe to our newsletters and be part of the Campus life

We are a world-leading healthcare complex where healthcare, research, teaching and innovation go hand in hand.

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.