Isabelle Perrault

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophy

This study uses human stem cell models to investigate IFT140 variants causing retinal dystrophy and identifies eupatilin as a potential therapeutic for cilia defects.

COBT: A gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

Pharmacological cAMP stimulation via prostaglandin receptors rescues ciliary defects in CEP290-deficient patient and mouse models

This study shows that Taprenepag, a PGE2 receptor agonist, improves cilia formation and light sensitivity in CEP290-deficient models by stimulating cAMP synthesis.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.