Endocrinopathies congénitales: de la génétique à la médecine personnalisée.

 

Johnny Deladoey

Centre de recherche du CHU Ste-Justine

 

Domaine : génétique humaine

Programme chercheurs-boursiers cliniciens - Junior 2

Concours 2014-2015

Despite our progress, the impact of congenital hormonal deficiencies on morbidity and mortality remains high. This is partly because the cause of the most common congenital thyroid and pituitary deficits remains unknown. Therefore, the diagnosis is unclear and sometimes delayed, the treatment is often empirical and clinical outcome remains unpredictable. In spite of a genetic contribution to the congenital thyroid and pituitary deficits is well documented, this genetic cause remains unknown in up to 80% of cases.

My research program aims to discover the genetic causes of congenital deficiencies of the thyroid and pituitary and to extend this approach to all congenital hormonal diseases seen in our clinic. The program will transfer basic knowledge to the clinic, bringing the benefits of personalized to all children with congenital hormonal disease.