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Diego Yeste Fernandez

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, Nuria Camats Tarruella, Mónica Fernández Cancio

Childhood obesity: metabolic complications and therapeutic approaches

We have created and are implementing and evaluating the outcomes of an educational program to treat paediatric obesity (Niñ@s en Movimiento®).

IP: Antonio Carrascosa Lezcano, Diego Yeste Fernandez

Projects

Identificación y caracterización de mecanismos moleculares implicados en las anomalias del desarrollo sexual y en la insuficiencia suprarrenal primaria de la infancia mediante la aplicación de técnicas de secuenciación masiva.

IP: Diego Yeste Fernandez
Collaborators: -
Funding agency:
Funding:
Reference: PR(AMI)252/2017
Duration: -

Identificación y caracterización de mecanismos moleculares implicados en la Dishormonogénesis Tiroidea mediante la aplicación de técnicas de secuenciación masiva y estudios funcionales

IP: Diego Yeste Fernandez
Collaborators: -
Funding agency:
Funding:
Reference: PR(AMI)390/2016
Duration: -

Caracterización molecular del gen GH1 en pacientes con déficit aislado idiopático de GH y en pacientes con retraso crónico de crecimiento y buena respuesta al tratamiento con GH exógena.

IP: Antonio Carrascosa Lezcano
Collaborators: Diego Yeste Fernandez
Funding agency: Instituto de Salud Carlos III
Funding: 105800
Reference: PI020803
Duration: 06/11/2002 - 06/11/2005

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

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