10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Background : In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center. We address the interest and ongoing challenges of this national data collection system 10 years after its implementation. Methods : Since 2007, clinicians and researchers have reported the “minimum dataset (MDS)” for each patient presenting to their expert center. We retrospectively analyzed administrative data, demographic data, care organization and diagnoses. Results : Over 10 years, 228,243 RD patients (including healthy carriers and family members for whom experts denied any suspicion of RD) have visited an expert center. Among them, 167,361 were patients affected by a RD (median age 11 years, 54% children, 46% adults, with a balanced sex ratio), and 60,882 were unaffected relatives (median age 37 years). The majority of patients (87%) were seen no more than once a year, and 52% of visits were for a diagnostic procedure. Among the 2,869 recorded rare disorders, 1,907 (66.5%) were recorded in less than 10 patients, 802 (28%) in 10 to 100 patients, 149 (5.2%) in 100 to 1,000 patients, and 11 (0.4%) in > 1,000 patients. Overall, 45.6% of individuals had no diagnosis and 6.7% had an uncertain diagnosis. Children were mainly referred by their pediatrician (46%; n = 55,755 among the 121,136 total children referrals) and adults by a medical specialist (34%; n = 14,053 among the 41,564 total adult referrals). Given the geographical coverage of the centers, the median distance from the patient’s home was 25.1 km (IQR = 6.3 km-64.2 km). Conclusions : CEMARA provides unprecedented support for epidemiological, clinical and therapeutic studies in the field of RD. Researchers can benefit from the national scope of CEMARA data, but also focus on specific diseases or patient subgroups. While this endeavor has been a major collective effort among French RD experts to gather large-scale data into a single database, it provides tremendous potential to improve patient care

Socio-Life Science and the COVID-19 Outbreak

This open access book presents the first step towards building socio-life science, a field of science investigating humans in such a way that both social and life-scientific factors are integrated. Because humans are both living and social creatures, a human action can never be understood fully without knowing both the biological traits of a person and the social scientific environments in which he exists. With this consideration, the editors of this book have initiated a research project promoting a deeper and more integrated understanding of human behavior and human health. This book aims to show what can, and could be, achieved through our interdisciplinary project. One important product is the newly formed three-party collaboration between Pasteur Institut, Kyoto University, and the Research Institute of Economy, Trade and Industry. Covering many different fields, including medicine, epidemiology, anthropology, economics, sociology, demography, geography, and policy, researchers in these institutes, and many others, present their studies on the COVID-19 pandemic. Although based on different methodologies, the studies show the importance of behavioral change and governmental policy in the fight against a huge pandemic. The book explains the unique genome cohort–panel data that the project builds to study social and life scientific aspects of humans

Socio-Life Science and the COVID-19 Outbreak

This open access book presents the first step towards building socio-life science, a field of science investigating humans in such a way that both social and life-scientific factors are integrated. Because humans are both living and social creatures, a human action can never be understood fully without knowing both the biological traits of a person and the social scientific environments in which he exists. With this consideration, the editors of this book have initiated a research project promoting a deeper and more integrated understanding of human behavior and human health. This book aims to show what can, and could be, achieved through our interdisciplinary project. One important product is the newly formed three-party collaboration between Pasteur Institut, Kyoto University, and the Research Institute of Economy, Trade and Industry. Covering many different fields, including medicine, epidemiology, anthropology, economics, sociology, demography, geography, and policy, researchers in these institutes, and many others, present their studies on the COVID-19 pandemic. Although based on different methodologies, the studies show the importance of behavioral change and governmental policy in the fight against a huge pandemic. The book explains the unique genome cohort–panel data that the project builds to study social and life scientific aspects of humans