[HTML][HTML] Biobanks for life sciences and personalized medicine: importance of standardization, biosafety, biosecurity, and data management
Biological samples such as tissues, blood and other body fluids, plants or seeds, prokaryotic
and eukaryotic cells or isolated biomolecules as well as associated data are the essential …
and eukaryotic cells or isolated biomolecules as well as associated data are the essential …
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
Although individually uncommon, rare diseases (RDs) collectively affect 6–8% of the
population. The unmet need of the rare disease community was recognized by the …
population. The unmet need of the rare disease community was recognized by the …
MIRACUM: medical informatics in research and care in university medicine
HU Prokosch, T Acker, J Bernarding… - … of information in …, 2018 - thieme-connect.com
Introduction: This article is part of the Focus Theme of Methods of Information in Medicine on
the German Medical Informatics Initiative. Similar to other large international data sharing …
the German Medical Informatics Initiative. Similar to other large international data sharing …
Share and protect our health data: an evidence based approach to rare disease patients' perspectives on data sharing and data protection-quantitative survey and …
S Courbier, R Dimond, V Bros-Facer - Orphanet journal of rare diseases, 2019 - Springer
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 …
and improve clinical benefits have been well documented in recent years, specifically in the …
[HTML][HTML] Orphan medicine incentives: how to address the unmet needs of rare disease patients by optimizing the European orphan medicinal product landscape …
A Aartsma-Rus, M Dooms, Y Le Cam - Frontiers in Pharmacology, 2021 - frontiersin.org
Today policy makers face the challenge to devise a policy framework that improves orphan
medicinal product (OMP) development by creating incentives to deliver treatments where …
medicinal product (OMP) development by creating incentives to deliver treatments where …
Extending the minimum information about biobank data sharing terminology to describe samples, sample donors, and events
N Eklund, NH Andrianarisoa… - Biopreservation and …, 2020 - liebertpub.com
Introduction: The Minimum Information About BIobank data Sharing (MIABIS) was initiated in
2012. MIABIS aims to create a common biobank terminology to facilitate data sharing in …
2012. MIABIS aims to create a common biobank terminology to facilitate data sharing in …
[HTML][HTML] Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles …
R Raycheva, K Kostadinov, E Mitova… - Frontiers in Public …, 2023 - frontiersin.org
Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …
systems, electronic health records, and health-related registries, a novel approach is …
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
A Ambrosini, D Calabrese, FM Avato, F Catania… - Orphanet Journal of …, 2018 - Springer
Background The worldwide landscape of patient registries in the neuromuscular disease
(NMD) field has significantly changed in the last 10 years, with the international TREAT …
(NMD) field has significantly changed in the last 10 years, with the international TREAT …
Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application
C Al-Khalili Szigyarto - Expert Review of Proteomics, 2020 - Taylor & Francis
Introduction Early biomarker discovery studies have praised the value of their emerging
results, predicting an unprecedented impact on health care. Biomarkers are expected to …
results, predicting an unprecedented impact on health care. Biomarkers are expected to …
The current landscape of European registries for rare endocrine conditions
SR Ali, J Bryce, M Cools, M Korbonits… - European journal of …, 2019 - academic.oup.com
Objective To identify cross-border international registries for rare endocrine conditions that
are led from Europe and to understand the extent of engagement with these registries within …
are led from Europe and to understand the extent of engagement with these registries within …