The CoMPaSS-NMD Atlas is designed to generate a ripple effect of positive impact across the entire healthcare ecosystem. For researchers and scientific communities The Atlas provides an ethical, FAIR-aligned (Findable, Accessible, Interoperable, and Reusable) data environment. It empowers scientists to build highly specific patient cohorts, safely download structural reports, and pool resources to accelerate the [...]
The platform balances advanced scientific capabilities with an accessible, browser-based web design that requires no special software installations. Key features include: Comprehensive clinical, genetic, imaging and tissue repositories: specialized modules allow the secure upload and preview of pseudonymized muscle MRI series and high-resolution muscle biopsy tissue scans as well as genetic data. Deep clinical mapping: [...]
The platform integrates 3 high value assets: The ATLAS Platform functions as the central data repository, incorporating novel clinical phenotyping via Human Phenotype Ontology and advanced filtering and search capabilities The ATLAS Data includes the pseudonymised clinical, genetic, histological and imaging data contributed by the clinical partner The ATLAS Data Upload Modules: include the standardised [...]
Historically, the medical and scientific community working on this type of diseases has faced several hurdle: Severe Data Fragmentation: the difficulty caused by disparate clinical, histology, MRI and genetic datasets that are isolated and not interoperable. Lack of Standardization and pipelines on procedures: the absence of harmonized procedures and consistent data capture methods and difficulty [...]
The present study involves the collection of clinical data, from muscle MRI (on clinical indication), muscle biopsy (on clinical indication) and DNA analysis. For each participating subject, the samples, collected with standardized methodologies, will be analyzed with the most sophisticated and advanced artificial intelligence computational techniques which will integrate them to try to obtain a [...]
Hereditary neuromuscular diseases are genetic and inherited diseases that cause progressive weakness and reduction of muscles, affecting the degree of mobility. Although it is difficult to predict how the disease will progress in the affected person, a progressive reduction in the ability to carry out certain movements is often observed and, in the long [...]
Medical genetic testing is often an important part of the diagnostic work-up (approximately 80% of rare diseases are genetic). Knowing the underlying genetic cause may make you eligible for certain research opportunities or clinical trials.
If your health care provider has been unable to make a definite diagnosis, you may need to be referred to the appropriate medical specialist. Ask your primary care provider for a referral or contact us.
Sometimes, getting the right diagnosis takes a long time because you might have common and seemingly unrelated symptoms, an unusual presentation of a known rare condition, or the clinician may not have the knowledge or experience.
