Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative

The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health

"Enfermedad de Fabry: Nuevos conceptos en su historia natural, evolución y tratamiento, en relación a los hallazgos del Registro Fabry"

"Fabry disease is an inherited lysosomal storage disease caused by deficient activity of the lysosomal enzyme, ?-galactosidase A . Currently, enzyme replacement therapy (ERT) is the specific treatment and it is demonstrated that the early use of it modifies the natural history of the disease. The Fabry Registry is a global, observational, and voluntary program designed to collect clinical data related to the onset, progression, and treatment of Fabry disease. Objective: To assess the natural history, evolution and treatment of Fabry disease. Material and methods: Results: The first symptoms started during childhood with onset occurring at 6 years old in boys and 9 in girls. The average age of diagnosis was at 25 and 32 in male and female respectively. Women involvement was more frequent than previously thought. The average age of the first stroke was at 39 years old in males and 45.7 in females. Conclusion: This analysis of the characteristics of the disease contributes to the growing evidence that Fabry disease starts at childhood, affects both genders and requires a multidisciplinary follow up. An improvement in the knowledge of the natural history of the disorder will get a better rate of suspiciousness in the medical community and an earlier diagnosis and treatment.

Enfermedad de Fabry: Nuevos conceptos en su historia natural, evolución y tratamiento, en relación a los hallazgos del Registro Fabry

Fabry disease is an inherited lysosomal storage disease caused by deficient activity of the lysosomal enzyme, ?-galactosidase A . Currently, enzyme replacement therapy (ERT) is the specific treatment and it is demonstrated that the early use of it modifies the natural history of the disease. The Fabry Registry is a global, observational, and voluntary program designed to collect clinical data related to the onset, progression, and treatment of Fabry disease. Objective: To assess the natural history, evolution and treatment of Fabry disease. Material and methods: Results: The first symptoms started during childhood with onset occurring at 6 years old in boys and 9 in girls. The average age of diagnosis was at 25 and 32 in male and female respectively. Women involvement was more frequent than previously thought. The average age of the first stroke was at 39 years old in males and 45.7 in females. Conclusion: This analysis of the characteristics of the disease contributes to the growing evidence that Fabry disease starts at childhood, affects both genders and requires a multidisciplinary follow up. An improvement in the knowledge of the natural history of the disorder will get a better rate of suspiciousness in the medical community and an earlier diagnosis and treatment