Prevention of respiratory sequellae in premature newborn babies: role of genetics

Identify the genes involved in the control of pulmonary development so as to better treat respiratories complications of the premature newborn.

PROJECT LEADER

Pr Christophe Delacourt, Professor of pédiatric pneumology, Inserm U 955, University Paris 12 Val de Marne.

Context

Premature birth is associated with a great risk of serious respiratories complications. Of the 15.000 extremely premature babies born each year in France, 4.000 will develop broncho-pulmonary dysplasia (BPD), characterized by a poor pulmonary development. This pathology is manifested in chronic respiratory problems, with prolonged oxygen-therapy after birth, recurrent respiratory problems during early childhood and disrupted neurological development. In spite of considerable improvement in the management of the extremely premature achieved in the last few years, the incidence of BPD is not decreasing. The development of new improved preventative or curative therapeutic measures is hampered by our inadequate understanding of the mechanisms of pulmonary development. The recent discovery of a genetic susceptibility to BPD opens a very promising new perspective in research into the identification of new therapeutic targets. Major advances in techniques of exploring the genome make genetic studies the preferred strategy in the discovery of molecular factors and markers which play a really critical role in the occurrence of BPD.

Objectives

  • Identify the principal genetic variations differentiating premature babies with BPD from those without BPD, by means of a study of the whole genome of 800 extremely premature babies.
  • Confirm that the genes identified are implicated in the control of pulmonary development.
  • Identify new therapeutic targets.

Added value of PremUp Foundation

Work in progress on the lungs of the premature baby within the PremUp network combines dimensions of both fundamental and clinical research. Thanks to this complementarity, the PremUp network of researchers have been able to develop highly innovative research into the respiratory complications of extreme prematurity, for which they have achieved international recognition. The PremUp network, thanks primarily to the Functional Unit of Clinical Research at Creteil, guarantees a top quality collection of both clinical and biological data that is essential for the success of genetic studies in multifactorial diseases such as BPD. Studies already carried out by the PremUp teams were the first to demonstrate the role of genetic variants implicated both in the risk of BPD and also in the expression of molecules controlling normal pulmonary development.

Projected budget

Budget over 3 years Year 1 Year 2 Year 3 TOTAL
Consumables 28.000 28.000 28.000 84.000
Technician 54.720 54.720 54.720 164.160
Honorarium for study organiser 42.660 42.660 85.320
Material 34.500 34.500
Genetic Studies 76.750 76.750 153.500

Administration costs of the project
(5 % of the total amount)

8.300 10.105 6.270 24.675
202.270 212.235 131.650 546.155

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