Rare lung diseases in children: phenotyping, genetics, course and disease burden

• Applicant: Professor Dr. Matthias Griese
• Subject Area: Pediatric and Adolescent Medicine ; Pneumology, Thoracic Surgery
• Term: since 2018
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 413551332

Childhood interstitial lung diseases (chILD) comprises many, rare chronic diseases, often caused by strong genetic factors, whose disease course is largely unexplored. The Children's Lung Registry with Biobank (chILD-EU) is an open platform for the collection, peer-review, and monitoring of these diseases. In the previous funding period, we implemented and successfully applied pathways for data-based, molecular genetics, functional and clinical characterization of chILD, and also generated new, testable hypotheses. These will now be answered in carefully phenotyped patient populations with the required biomaterials, by applying appropriate, technically advanced molecular methods. The 1st work package will investigate whether the proportion of etiologically resolved cases of chILD can be increased by at least 10% by targeted use of advanced genomic and transcriptome analyses. The 2nd work package will use a large cohort of families with persistent tachypnea of infancy (NEHI) to investigate the hypothesis of whether etiologically relevant genes are located in the candidate regions we have identified on chromosome 1. In the 3rd work package, we will investigate whether pulmonary fibrosis in children adversely affects long-term outcome, whether secondary pulmonary hypertension has no effect, and whether infants with chILD and extrapulmonary organ manifestations have increased morbidity and poorer quality of life.We expect to molecularly elucidate new disease entities, improve their genetic diagnosis, and clarify the impact of childhood pulmonary fibrosis, pulmonary hypertension, and the influence of co-morbidities on the long-term course of patients with childhood interstitial lung diseases.

• DFG Programme: Research Grants