Background the needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. understanding what patients want and need from rare disease research and data sharing is. Davelyn hood, md, joshua mann, mph, and jessica bohonowych, ph.d. discuss what rare disease patients and caregivers can bring to the drug development process.
Sharing data in the field of rare diseases is critical for advancing research, clinical innovations, and patient outcomes. the aggregation of rare disease data helps researchers identify genetic markers and disease mechanisms, cultivating a global understanding of the field and paving the way for better diagnostics and treatments. Improving our understanding of rare disease and developing new therapies can only succeed through global collaboration. whole genome sequencing is increasingly being deployed to diagnose rare disease, and can be combined with machine learning tools that analyze patient photos to identify phenotypes. clinical interpretation of genomes and phenotypic data in rare disease depends on sharing. Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and there is hope that disease specific treatments are on the way. however, the rare disease community has reached a critical point in which its increasingly fragmented structure and operating. Data sharing platforms such as gene matcher, matchmaker exchange and mygene2 have emerged to disseminate knowledge on rare diseases. physicians and scientists who encounter a patient who has an.
Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and there is hope that disease specific treatments are on the way. however, the rare disease community has reached a critical point in which its increasingly fragmented structure and operating. Data sharing platforms such as gene matcher, matchmaker exchange and mygene2 have emerged to disseminate knowledge on rare diseases. physicians and scientists who encounter a patient who has an. Studies have demonstrated the value of genomic analysis for the diagnosis of rare diseases, but accessibility is still in its infancy; global data sharing is needed to further advance our. The minimum data set (mds) is a collection of data elements to be grouped in a standard approach to allow the use of data for clinical and research purposes. an mds is designed to capture essential data elements, which can be aggregated, at an individual level, or a combination of both, depending on the specific requirements of the registry and.
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