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Nuria Camats Tarruella

Institutions of which they are part

Postdoctoral 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

Projects

Estudios funcionales de variantes genéticas en pacientes con hiperinsulinismo congénito

IP: Nuria Camats Tarruella
Collaborators: -
Funding agency: Fundación Sdad.Española Endocrino.Pediatrica
Funding: 10000
Reference: SEEP/END.PED-BAS/2022/CAMATS
Duration: 16/05/2022 - 15/05/2023

Primary ciliary dyskinesia in adult bronchiectasis. Diagnostic strategy based on next generation sequencing gene panel analysis.

IP: Antonio Moreno Galdó
Collaborators: Antonio Álvarez Fernandez, David Clofent Alarcón, Sandra Rovira Amigo, Alba Torrent Vernetta, Nuria Camats Tarruella
Funding agency: Instituto de Salud Carlos III
Funding: 134915
Reference: PI20/01419
Duration: 01/01/2021 - 31/12/2023

Desarrollo sexual humano: identificación de nuevos genes por secuenciación masiva del RNA

IP: Nuria Camats Tarruella
Collaborators: -
Funding agency:
Funding:
Reference: PR(AG)132/2018
Duration: -

Caracterización molecular de la discinesia ciliar primaria

IP: Antonio Moreno Galdó
Collaborators: Antonio Carrascosa Lezcano, Félix Pumarola Segura, María Antolín Mate, Sandra Rovira Amigo, Nuria Camats Tarruella
Funding agency: Instituto de Salud Carlos III
Funding: 110715
Reference: PI16/01233
Duration: 01/01/2017 - 31/05/2021

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