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Epilepsy genetics 2023: From research to advanced clinical genetic test interpretation
The presentation will provide an overview of the expanding role of genetic factors in epilepsy. It will delve into the fundamentals of this field and elucidate how digital tools and resources can aid in the re-evaluation of genetic test results. In the initial segment of the presentation, Dr. Lal will examine the advancements made over the past two decades regarding the genetic architecture of various epilepsy types. Additionally, he will present research studies in which he has actively participated, offering concrete examples. Subsequently, during the second part of the talk, Dr. Lal will share the ongoing research projects that focus on epilepsy genetics, bioinformatics, and health record data science.
Brain chart for the human lifespan
Over the past few decades, neuroimaging has become a ubiquitous tool in basic research and clinical studies of the human brain. However, no reference standards currently exist to quantify individual differences in neuroimaging metrics over time, in contrast to growth charts for anthropometric traits such as height and weight. Here, we built an interactive resource to benchmark brain morphology, www.brainchart.io, derived from any current or future sample of magnetic resonance imaging (MRI) data. With the goal of basing these reference charts on the largest and most inclusive dataset available, we aggregated 123,984 MRI scans from 101,457 participants aged from 115 days post-conception through 100 postnatal years, across more than 100 primary research studies. Cerebrum tissue volumes and other global or regional MRI metrics were quantified by centile scores, relative to non-linear trajectories of brain structural changes, and rates of change, over the lifespan. Brain charts identified previously unreported neurodevelopmental milestones; showed high stability of individual centile scores over longitudinal assessments; and demonstrated robustness to technical and methodological differences between primary studies. Centile scores showed increased heritability compared to non-centiled MRI phenotypes, and provided a standardised measure of atypical brain structure that revealed patterns of neuroanatomical variation across neurological and psychiatric disorders. In sum, brain charts are an essential first step towards robust quantification of individual deviations from normative trajectories in multiple, commonly-used neuroimaging phenotypes. Our collaborative study proves the principle that brain charts are achievable on a global scale over the entire lifespan, and applicable to analysis of diverse developmental and clinical effects on human brain structure.
Neurological consequences of COVID-19
The speakers will outline how neurologists in Bristol have been research-active during the COVID-19 pandemic including our contribution to national and international surveillance programmes as well as initiating research studies such as an evaluation of the impact of COVID anxiety on sleep and neurodegeneration and determining whether vascular changes in the eye predict COVID-19 severity.
Student´s Oral Presentation III: Emotional State Classification Using Low-Cost Single-Channel Electroencephalography
Although electroencephalography (EEG) has been used in clinical and research studies for almost a century, recent technological advances have made the equipment and processing tools more accessible outside laboratory settings. These low-cost alternatives can achieve satisfactory results in experiments such as detecting event-related potentials and classifying cognitive states. In our research, we use low-cost single-channel EEG to classify brain activity during the presentation of images of opposite emotional valence from the OASIS database. Emotional classification has already been achieved using research-grade and commercial-grade equipment, but our approach pioneers the use of educational-grade equipment for said task. EEG data is collected with a Backyard Brains SpikerBox, a low-cost and open-source bioamplifier that can record a single-channel electric signal from a pair of electrodes placed on the scalp, and used to train machine learning classifiers.
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