Computational Genomics ePosters

Visual impairment is occasionally observed in multiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE). Although uveitis and optic neuritis have been reported in MS and EAE, the precise mechanisms underlying the pathogenesis of these visual impairments remain poorly understood.…

Translating insights from genome-wide association studies (GWASs) into practical therapies for depression poses a significant challenge. Our objective is to address this challenge by utilizing network-based algorithms on GWAS outcomes for drug repurposing. This approach aims to advance precision medicine, specifically…

Astrocytes, crucial glial cells in the central nervous system, maintain brain function and neuronal health. However, understanding their role and molecular changes in Parkinson's disease (PD) is limited. To illuminate this, we employed single-nucleus profiling across four brain regions: Substantia Nigra (SN), Ventral…

The embryonic striatal development is a complex orchestrated process driven by a pattern of gene expression at neuronal progenitors. The correct maturation of striatal projection neurons (SPNs) that populate the striatum depends on their coordinated differentiation and their posterior organization into the striatal…

Our study investigates mechanisms of epileptogenesis caused by the p.A263V mutation in the SCN2A gene using a Scn2a p.A263V mouse model. The SCN2A gene is known for its role in neurodevelopmental disorders with epileptic presentations. Our objective is to understand the molecular foundations of neonatal neuronal…

Alterations of N6-methyladenosine (m6A) RNA modifications are responsible for a platter of structural and functional changes in healthy and cancerous cell states. Even though several studies have linked m6A to the onset and development of tumors, very few have examined transcriptome-wide m6A landscape of long…

Astrocytes and neurons collaboratively shape neural networks, influencing metabolism, synapse formation, and network dynamics. Dysfunctions in either cell type are implicated in diverse brain disorders. In order to gain insight into the transcriptional profile of hiPSC-derived astrocytes and neurons, we performed…

Gray matter damage underlies progressive cognitive impairment (CI) in multiple sclerosis (MS). To identify transcriptome changes associated with CI, we analyzed the prefrontal cortex (PFC), a brain region relevant for cognition, at the acute phase of experimental autoimmune encephalomyelitis (EAE), a well-established…

Voltage-gated sodium channels (Navs) play an integral role in brain function and development, enabling the generation and transmission of electrical signals with implications for neuronal excitability, synapse formation, and circuit establishment. Despite the distinct spatiotemporal expression of Navs, the…

Spinal cord injury (SCI) is a complex disorder that triggers a cascade of biochemical processes interwoven by cell-type specific responses after the initial injury. This progressive cascade is collectively termed the "secondary injury", and involves inflammatory cell infiltration and cytokine release, apoptosis,…

The human prefrontal neocortex has undergone dramatic expansion during evolution and is involved in decision-making, stress resistance, and behavioral flexibility. Its capacity for high-level cognition emerges from a regularly organized, six-layered structure; however, the newborn transcriptome architecture underlying…

Alzheimer's disease (AD) is characterized by significant molecular heterogeneity, influenced by a complex interplay of genetic and environmental factors. This study aims to dissect cell-type-specific and spatial transcriptomic alterations in AD, with a particular focus on a subgroup of Down Syndrome (DS) patients…

Despite decades of meticulous classification of spinal subtypes involved in central pattern generation (CPG), the synaptic architecture and mechanisms underlying locomotion remain elusive. We recently proposed a random network model, based on balanced excitation/inhibition, termed the Balanced Sequence Generator…

Several studies have examined the genetic factors shared between Parkinson’s disease (PD) and schizophrenia (SZ), but the biological themes underlying their clinical relationship remain less explored. We employed systematic transcriptomic and network analyses (Figure 1) to examine the genes targeted by two sets of…

Alzheimer’s disease (AD) is a neurodegenerative disorder with complex pathological manifestations and is the leading cause of cognitive decline and dementia in elderly individuals. A major goal in AD research is to identify new therapeutic pathways by studying the molecular and cellular changes in the disease, either…

Down syndrome is a common neurodevelopmental condition and major genetic cause of intellectual disability. Although trisomy of chromosome 21 is long known as underlying cause, it is not well understood how the increased dosage of over 300 genes on chromosome 21 perturbs transcriptional and epigenetic programmes…

The dentate gyrus (DG) of the ventral hippocampus is a key hub critical for the responses to prolonged chronic stress and antidepressant drugs, including the antidepressant candidate acetyl-L-carnitine (LAC). Prior studies from our and other laboratories showed transcriptome-wide signatures in this brain area with…

Substance use disorders (SUD) and aggressive behaviour often co-occur within individuals, along with transdiagnostic behavioural traits such as risk-taking behaviour, impulsivity, irritability, neuroticism, or anxiety. This study investigates shared genetic risk factors across these phenotypes using public genome-wide…

SP4 gene is one of the two risk genes implicated in schizophrenia in recent large unpublished case-controlled genomic and exomic sequencing studies. Data on Spatio-temporal SP4 expression in the brain and it's biological functions are sparse in published literature. Bulk RNA sequencing and single-cell high-resolution…

Chronic pain is a major disease burden with high incidence compared to other chronic diseases and with high persistence among affected individuals over many years.Satellite glial cells (SGCs) is a supportive cell type that ensheath the body of sensory neurons in the peripheral nervous system and in health SGCs are…

SATB2, encoding a DNA-binding nuclear protein, is genetically associated with human intelligence and schizophrenia. Individuals with SATB2 haploinsufficiency suffer from SATB2-associated syndrome defined by developmental delay, severe intellectual disability, and absent/limited speech. In a previous study we have…

Computational methods emerged as novel tools in the quest for our human origins (Piszczek et al., 2024). Fusing archaic genomes, human brain gene expression data, and fMRI allowed to extrapolate multi-genic selection during the 60 Mya of Anatomically Modern Humans (AMH) ancestral evolution (Kaczanowska et al., 2022).…

Charting the regulatory interactions between transcription factors (TFs), enhancers, and genes during the formation of neuronal lineages in human can help decipher the complex genetic etiologies of neurodevelopmental disorders such as autism spectrum disorder (ASD). To achieve this, we conducted an integrative…

The Allen Gene Expression ISH dataset has been a highly impactful resource for Neuroscientists. Mapping the location within the brain of more than 20,000 genes, it has transformed our understanding of the relationship between gene expression and neuroanatomical structures. Nevertheless, at nearly 20 years old, the…