BANCCO+

A CNV database to reduce diagnostic wandering, identify new genes, and expand our knowledge of the human genome

• Genetics/Heredity
• Rare diseases
• Families

FACE.S-4-KIDS

A deep-phenotyping database using artificial intelligence to study craniofacial anomalies during development

• Rare diseases
• Genetics/Heredity
• Families

MITOMICS

Mitochondrial Disease database: An integrated multi-OMICS approach

PAMPERO

Towards personalized medicine in a rare genetic vascular disease: Rendu-Osler disease

• Genetics/Heredity
• Rare diseases
• Families

RaDiCo

Rare Disease Cohort Program

• Families
• Genetics/Heredity
• Rare diseases

RaDiCo - ECYSCO

European cystinosis cohort: new biomarkers and new therapeutic approaches

• Genetics/Heredity
• Rare diseases
• Families

RASores

Preclinical approaches for the treatment of RASopathy patients through a multi-omic study of their pathophysiology using a deeply phenotyped cohort in a dedicated European registry

• Rare diseases
• Databases
• Genetics/Heredity