Patient Registries and Biobanks

Research on genetic diseases relies on the availability of biomaterials (DNA, cells and tissue), while clinical studies rely on the availability of suitable patient cohorts. Through past and ongoing RMGA-funded initiatives, several biobanks, biocatalogs of human biological materials and patient registries have been developed. These resources have greatly facilitated gene identification, understanding the pathogenesis of different genetic disorders, epidemiological studies, genotype/phenotype correlations and clinical trials. The RMGA supports different Platforms that offer Services to RMGA members and the scientific community.