Publications by authors named "M Barkhuizen"
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
PLoS One
October 2023
Article Synopsis
- Parkinson's disease (PD) is a brain disorder affecting about 7 million people, with genetics playing a big role in some cases, especially in European people.
- Most research has been done on people of European descent, leaving a gap in understanding how PD affects other groups.
- To improve research and create new treatments, scientists have formed a global network of 59 research centers and developed tools like an online map to share information and resources with each other.
Article Synopsis
- - The study aimed to create a global cohort of individuals with Parkinson's disease (PD) linked to specific genetic variants, aiming to improve the understanding and treatment of monogenic PD.
- - Researchers collected data from 3,888 participants across 92 centers in 42 countries, including 3,185 diagnosed with PD and 703 unaffected individuals, which highlighted a total of 269 distinct pathogenic variants.
- - This initiative not only established the largest international genetic PD cohort but also provided quality-controlled clinical and genetic data to foster further research collaboration.
Astrocytes play a central role in the neuroimmune response by responding to CNS pathologies with diverse molecular and morphological changes during the process of reactive astrogliosis. Here, we used a computational biological network model and mathematical algorithms that allow the interpretation of high-throughput transcriptomic datasets in the context of known biology to study reactive astrogliosis. We gathered available mechanistic information from the literature into a comprehensive causal biological network (CBN) model of astrocyte reactivity.
View Article and Find Full Text PDFCongenital heart defects (CHD) is one of the most common types of birth defects. Thanks to advances in surgical techniques and intensive care, the majority of children with severe forms of CHD survive into adulthood. However, this increase in survival comes with a cost.
View Article and Find Full Text PDFPlacental and fetal hypoxia caused by perinatal hypoxic-ischemic events are major causes of stillbirth, neonatal morbidity, and long-term neurological sequelae among surviving neonates. Brain hypoxia and associated pathological processes such as excitotoxicity, apoptosis, necrosis, and inflammation, are associated with lasting disruptions in epigenetic control of gene expression contributing to neurological dysfunction. Recent studies have pointed to DNA (de)methylation, histone modifications, and non-coding RNAs as crucial components of hypoxic-ischemic encephalopathy (HIE).
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