Actualités

Discovery of a new genetic cause of brain inflammation

A new MEDopathy caused by biallelic mutations of MED16

Sickle cell disease: gene therapy efficacy depends on degree of host inflammation

Notch3, a new player in heart development and asymmetry

Enhanced bone repair with FGFR antagonists in a model of hypochondroplasia

A genetic cause of an inherited bone marrow failure identified

Jean-Laurent Casanova’s pioneering genetic discoveries earn him the 2025 Novo Nordisk Prize

Deciphering the genetic origin of language development disorders in children without intellectual disabilities, autism or apraxia of speech

Evaluation of an innovative support programme for young patients with rare genetic epilepsies

Amyotrophic lateral sclerosis: a defect in autophagy responsible for the disease

Incontinentia Pigmenti, a rare skin disease that also predisposes to viral infections

The first inherited TNF deficiency in human underlies susceptibility to tuberculosis

Innov4-ePiK: Innovative diagnostic and therapeutic approaches in potassium channel developmental and epileptic encephalopathies (K-DEEs) using 4P for medicine.

The role of dendritic cells in papillomavirus infections: from the FLT3LG gene to therapeutic perspectives

From the probability of being born left-handed to Rare Diseases: The Mysteries of Tubulin Beta 4B Variations (TUBB4B)