InGene: a multimodal approach to the genotype-phenotype association in neuromuscular diseases

Conte, Raffaele; Sansone, Francesco; Tonacci, Alessandro; Roccella, S.; Spezzaneve, Andrea; Rateni, Giovanni; Tesconi, M.; Calderisi, Marco; Fantacci, Maria Evelina

doi:10.1109/icce-berlin.2018.8576215

Cited by 3 publications

(1 citation statement)

References 5 publications

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“…In Tuscany Region is ongoing the test of a multimodal platform consisting of modules for collecting genetic data, imaging (muscular MRI), neurological examination, physiotherapy assessments, to be implemented with data collected by wearable sensors, muscular biopsy and machine learning algorithms, becoming a reference tool for genotype/phenotype association in NMDs [52].…”

Section: New Strategies For Data Acquisition Management and Processingmentioning

confidence: 99%

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021

Schirinzi,

Bochicchio,

Lochmüller

et al. 2024

JND

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Neuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies. From diagnosis to treatment and follow-up, the development of technological solutions can improve the detection of several critical aspects related to the diseases, addressing both the met and unmet needs of clinicians and patients. Among several aspects of the digital transformation of health and care, this congress expands what has been learned from previous congresses editions on applicability and usefulness of technological solutions in NMDs. In particular the focus on new solutions for remote monitoring provide valuable insights to increase disease-specific knowledge and trigger prompt decision-making. In doing that, several perspectives from different areas of expertise were shared and discussed, pointing out strengths and weaknesses on the current state of the art on topic, suggesting new research lines to advance technology in this specific clinical field.

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Section: New Strategies For Data Acquisition Management and Processingmentioning

confidence: 99%

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021

Schirinzi,

Bochicchio,

Lochmüller

et al. 2024

JND

Self Cite

View full text Add to dashboard Cite

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AUTOMA 2.0: a Wearable Platform to Assess the Muscular Activity of Upper and Lower Limbs in Patients Affected by Neuromuscular Disorders

Roccella,

Vannini,

Lazzarini

et al. 2023

2023 IEEE 13th International Conference on Consumer Electronics - Berlin (ICCE-Berlin)

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Privacy-by-Design and Minimization within a Small Electronic Health Record: The Health360 Case Study

et al. 2022

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Electronic health records are playing an important role in todays’ clinical research, with the possibility to collect a wide amount of data from different sources, not only within a structured clinical setting, but also making best use of new portable technologies, such as smartphones, sensors and Internet-of-Things, as an unprecedented spring of data. In this way, even in small clinical centers, often featuring limited financial availabilities, not only clinicians can have a complete, timely outlook on patients’ health, but also data scientists could use such information to build and train tailored models in the broader perspective of “p4 medicine”. However, all this should align with the strict regulations and needs concerning data privacy and security, safeguarding the rights of the individual and the confidentiality of information related to their healthcare status. Here, we present a case study dealing with Health360, a platform designed to fill in this gap, representing the ideal solution for small clinical centers, where usability and cost-affordability are key characteristics for such a system, to collect multimodal data from various sources actually employed in the framework of neuromuscular conditions. The platform, designed under the Software-as-a-Service paradigm, actually collects data from different clinical centers active in the field of neuromuscular diseases, and therefore was designed to grant access to the data to specific professionals depending on their roles. At the same time, to the benefit of data scientists, Health360 enables joint data processing, with the management of authorization principles for various health professionals from different clinical centers, which is regulated by the data minimization principle, based on the accessing profile. Under such premises, we present here the approach followed for the implementation of the platform, managing the trade-off between the need from various professionals for accessing the complete dataset and the privacy requirements, as well as confidentiality maintenance for sensitive data of patients enrolled on the project.

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InGene: a multimodal approach to the genotype-phenotype association in neuromuscular diseases

Cited by 3 publications

References 5 publications

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021

AUTOMA 2.0: a Wearable Platform to Assess the Muscular Activity of Upper and Lower Limbs in Patients Affected by Neuromuscular Disorders

Privacy-by-Design and Minimization within a Small Electronic Health Record: The Health360 Case Study

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