HEALTH

Users of NGS technologies, producing large and numerous distinct types of omics data, demands statistical methods to combat data and knowledge fragmentation and inappropriate procedures for data analysis. Yet, the current a gap between the available tools for analysis of a single omics data-type versus the requirement of biomedical scientists to understand the integrated results derived from several omics data-types, threatens to further increase due to the accelerated capacity of data production.

Mucopolysaccharidosis VI (MPS VI, or Maroteaux-Lamy syndrome; OMIM #253200) is a rare lysosomal storage disease caused by deficient activity of arylsulfatase B (ARSB). MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement. Thus, systemic therapies targeting peripheral organs have the potential to fully correct the MPS VI phenotype.

The overall goal with INFECT is to advance our understanding of the pathophysiological mechanisms, prognosis, and diagnosis of the multifactorial highly lethal NSTIs. The fulminant course of NSTIs (in the order of hours) demands immediate diagnosis and adequate interventions in order to salvage lives and limbs. However, diagnosis and management are difficult due to heterogeneity in clinical presentation, in co-morbidities and in microbiological aetiology. Thus, there is an urgent need for novel diagnostic and therapeutic strategies in order to improve outcome of NSTIs.

EURenOmics will integrate several established consortia devoted to rare kidney diseases with eminent need and potential for diagnostic and therapeutic progress (i.e. steroid resistant nephrotic syndrome, membranous nephropathy, tubulopathies, complement disorders such a haemolytic uraemic syndrome, and congenital kidney malformations). The Consortium has access to the largest clinical cohorts assembled to date (collectively >10,000 patients) with detailed phenotypic information and comprehensive biorepositories containing DNA, blood, urine, amniotic fluid and kidney tissue.

Integrated delivery systems of care, e.g. networks of health organizations and professionals who work together to coordinate services to meet their patients’ needs, are an important way of linking fragmented services and maximizing system efficiency and seamlessness of patient transition. Research increasingly shows that patients with advanced cancer and advanced chronic disease are treated well by integrated palliative care pathways, with comparable quality of care at lower costs.

Primary Ciliary Dyskinesia (PCD) is a rare genetically heterogeneous disorder which results from dysfunction of motile hair-like organelles (cilia) that results in severe, chronic airways disease. Due to other cilia-related disease mechanisms several other organ systems like the heart can be affected. The complexity of the disease phenotype, late diagnosis, as well as lack of evidence based management guidelines contribute to a high burden of disease and cause high health care costs.

The overall objective is to develop a novel preventative intervention for the blinding disease retinopathy of prematurity (ROP) and other complications of prematurity. The PREVENTROP consortium proposes to conduct preclinical studies (pharmacological, pharmacodynamics, pharmacokinetics and toxicological) in models and/or clinical studies (including phase III clinical trial) of an EU designated orphan medicinal product. This orphan medicinal product has been granted the EU orphan designation.

Duchenne muscular dystrophy (DMD) is a progressive, lethal muscle degenerative dition arising from the absence of dystrophin in skeletal and cardiac muscles. 65% of DMD boys have out-of-frame deletions. Modulation of pre-mRNA splicing by exon skipping is the most promising molecular intervention in DMD.

Systems biology involves the analysis of relationships among the elements in a system, viewed as an integrated and interacting network of genes, proteins and biochemical reactions. We have pioneered the use of metabolic profiling and the metabolome-wide association study (MWAS) approach, involving high-throughput spectroscopic screening, to capture comprehensive data on a range of exposures affecting disease risk from genetic, lifestyle, gut microbial and xenobiotic sources. Cardiovascular disease is the leading cause of death worldwide.

Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data and disease types. Individual efforts have little interoperability and almost no systematic connection between detailed clinical and genetic information, biomaterial availability or research/trial datasets.