Neonatal hypoxic ischaemic encephalopathy (HIE) occurs in 2-3/1000 live births and is a major cause of both acute mortality and long-term neurodisability. Seizures are the hallmark of HIE. The clinical and electrographic seizure burden in babies with HIE can be siderable and is often not reduced by current antiepileptic drugs. Phenobarbitone remains the first line drug for neonatal seizures despite the fact that it has limited efficacy.
Nuclease Immune Mediated Brain and Lupus-like (NIMBL) ditions, comprising Aicardi-Goutieres Syndrome, Retinal Vasculopathy with Cerebral Leukodystrophy and some cases of Systemic Lupus Erythematosus, are devastating genetic disorders resulting in greatly reduced quality of life, high mortality especially in children, and significant risks of recurrence within affected families. NIMBL ditions are rare, but under diagnosed. No effective treatments or cures exist at present.
Usher syndrome (USH) is the most frequent hereditary cause of deafness associated to blindness. It is a rare disease, affecting 1 in every 10.000 individuals, with an autosomal recessive monogenic inheritance. Deafness is genital while the retinitis pigmentosa is not detected before the age of 8 to 10. These patients suffer from a dreadful disability as their two major senses are impaired. Important scientific advances have been achieved, mostly by auditory scientists: 9 causative genes have been identified.
The SUBLIMA project aims at truly simultaneous, fully integrated, solid-state PET/MR technology for concurrent functional and anatomical imaging with unsurpassed image quality. It will combine the extremely sensitive functional imaging possibilities provided by PET with the excellent soft-tissue contrast and complementary functional imaging capabilities of MR. For the first time, time-of-flight (ToF) and depth-of-interaction (DoI) correction will be introduced together into a PET/MR system.
AIM: To identify the molecular mechanisms characterizing cilium function, and the discrete perturbations associated with dysfunction caused by mutations in inherited ciliopathies, applying a systems biology approach.
Chronic kidney disease (CKD) affects up to 10% of the population. Besides eventual progression towards end stage renal disease CKD impacts the patient’s quality of life by causing serious comorbidities including cardiovascular complications and bone metabolism disorders. On the everyday clinical level early stage diagnosis and tailored treatment of CKD are still inadequate.
This proposal describes CREATE, an internationally based Coordination Action directly addressing a large scale data gathering activity for systematic conditional mouse mutagenesis. Advances in the sophisticated manipulation of the mouse genome has established the mouse as the premier organism for developing models of human disease. Internationally coordinated initiatives have established for the systematic generation of conditional mouse mutants on a large scale employing the Cre-lox binary system.
The I-DCC coordination and support project responds to the topic defined by HEALTH-2007-2.1.2-6 International activities in large-scale data gathering and systems biology. I-DCC integrates European skills, efforts, resources, and infrastructure in an international collaborative programme to establish a European Data Coordination Centre for mouse genetic resources. Large-scale mouse mutagenesis programs have been established worldwide with the aim of creating loss-of-function mutations in all genes in the mouse.
Current human resources planning models in nursing are unreliable and ineffective as they consider volumes, but ignore effects on quality in patient care. The project RN4CAST aims innovative forecasting methods by addressing not only volumes, but quality of nursing staff as well as quality of patient care.
Schizophrenia and bipolar affective disorder are a major burden to affected individuals and their families and to society at large. These two severe mental illnesses affect at least 2% of the population worldwide, and whilst 50% of sufferers do not receive adequate treatment, they cost hundreds of billions in healthcare provision, treatments and lost earnings.
