Here you will find abstracts for the general public of research projects linked to PFMG2025. These projects were the subject of an application to the CAD, approved by the CSE, to use data made available through the ‘Collecteur Analyseur de Données’ data warehouse.

You can also find all the research projects on the CAD website.

Research project
Domain
Type
Portage
Performance indicators and impact on the care pathway of sequencing at the PFMG clinical chemistry laboratory (LBM-FMG) using SeqOIA and AURAGEN (Seqogen) for oncology patients Cancers
Constitutional bone disorders : Overcoming diagnostic odyssey and understanding phenotypic variability Rare diseases Bone and joint diseases OSCAR
PFMG Re-analysis DRSP: Identification of Genetic Causes Responsible for Pediatric Retinal Diseases Rare diseases Sensory disorders SENSGENE
Development of computational approaches based on Deep Learning for the joint evaluation of CNVs (Copy Number Variants) and SNVs (Single Nucleotide Variants) identified by genome sequencing in a cohort of patients with intellectual disability under the hypothesis of digenism Rare diseases Malformations and neurodevelopmental disorders AnDDI-Rares
Defiscience
Study of the cis-regulatory regions of the tumor suppressor gene PTEN and their involvement in Cowden disease Rare diseases Dermatological diseases Fimarad
Genes and non-coding regions involved in structural developmental anomalies of the pons and cerebellum Rare diseases Malformations and neurodevelopmental disorders Defiscience
Using CAD genomic data to improve the diagnosis of patients with microcephaly Rare diseases Malformations and neurodevelopmental disorders AnDDI-Rares
Defiscience
PFMG Re-analysis – Discovering New Genetic Causes of Early-Onset Hearing Loss Rare diseases Sensory disorders SENSGENE
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in peritoneal mesothelioma Cancers Adult cancers
Re-analysis of Genomes for Developmental Anomalies, Rare-Cause Intellectual Disabilities, Mitochondrial and Neurogenetic Diseases Rare diseases Malformations and neurodevelopmental disorders AnDDI-Rares
Defiscience
Description of molecular alteration targeting in patients with rare cancers: national prospective cohort Cancers Adult cancers
Identification and validation of new genes and mutations in neuromuscular diseases project Rare diseases Neuromuscular diseases
DenovoRank Rare diseases Malformations and neurodevelopmental disorders AnDDI-Rares
Defiscience
Precision Medicine and Immunotherapy of Sarcomas Cancers Adult cancers
Evaluating innovative treatments in children with cancer who are treatment-resistant or in relapse: the European clinical trial AcSé-ESMART Cancers Pediatrics cancers SFCE
Genetics of Intellectual Disability and Imaging Rare diseases Malformations and neurodevelopmental disorders AnDDI-Rares
Defiscience
Resolving the diagnostic deadlock in cardiomyopathies Rare diseases Cardiac and vascular diseases
PFMG Re-analysis of Genomed Ataxias/Spastic Parapareses Rare diseases Neurological diseases BRAIN-TEAM