Riccardo Sangermano

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.

The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.