RESUMEN
The key to stopping Alzheimer's disease (AD) lies in the pre-dementia stages, with the goal to stop AD before dementia has started. We present the rationale and design of the ABOARD (A Personalized Medicine Approach for Alzheimer's Disease) project, which aims to invest in personalized medicine for AD. ABOARD is a Dutch public-private partnership of 32 partners, connecting stakeholders from a scientific, clinical, and societal perspective. The 5-year project is structured into five work packages on (1) diagnosis, (2) prediction, (3) prevention, (4) patient-orchestrated care, and (5) communication and dissemination. ABOARD functions as a network organization in which professionals interact cross-sectorally. ABOARD has a strong junior training program "Juniors On Board." Project results are shared with society through multiple communication resources. By including relevant partners and involving citizens at risk, patients, and their care partners, ABOARD builds toward a future with personalized medicine for AD. Highlights: ABOARD (A Personalized Medicine Approach for Alzheimer's Disease) is a public-private research project executed by 32 partners that functions as a network organization.Together, the project partners build toward a future with personalized medicine for Alzheimer's disease.Although ABOARD is a Dutch consortium, it has international relevance.ABOARD improves diagnosis, prediction, prevention, and patient-orchestrated care.
RESUMEN
X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids in plasma and tissues. Patients present with heterogeneous clinical manifestations which can include adrenal insufficiency, myelopathy, and/or cerebral demyelination. In the absence of a genotype-phenotype correlation, the clinical outcome of an individual cannot be predicted and currently there are no molecular markers available to quantify disease severity. Therefore, there is an unmet clinical need for sensitive biomarkers to monitor and/or predict disease progression and evaluate therapy efficacy. The increasing amount of biological sample repositories ('biobanking') as well as the introduction of newborn screening creates a unique opportunity for identification and evaluation of new or existing biomarkers. Here we summarize and review the many studies that have been performed to identify and improve knowledge surrounding candidate molecular biomarkers for ALD. We also highlight several shortcomings of ALD biomarker studies, which often include a limited sample size, no collection of longitudinal data, and no validation of findings in an external cohort. Nonetheless, these studies have generated a list of interesting biomarker candidates and this review aspires to direct future biomarker research.