Gokul Ramaswami
A5011919461- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetic Syndromes and Imprinting
- Autism Spectrum Disorder Research
- RNA regulation and disease
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Bioinformatics and Genomic Networks
- Amyotrophic Lateral Sclerosis Research
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic Mapping and Diversity in Plants and Animals
- Single-cell and spatial transcriptomics
- Cancer-related molecular mechanisms research
- Hedgehog Signaling Pathway Studies
- Nuclear Receptors and Signaling
- Parkinson's Disease Mechanisms and Treatments
- Tryptophan and brain disorders
- Folate and B Vitamins Research
- Genomics and Chromatin Dynamics
University of California, Los Angeles
2016-2022
Center for Autism and Related Disorders
2016-2020
University of Michigan–Ann Arbor
2010-2013
Pediatrics and Genetics
2011
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2011
Genes overlap across psychiatric disease Many genome-wide studies have examined genes associated with a range of neuropsychiatric disorders. However, the degree to which genetic underpinnings these diseases differ or is unknown. Gandal et al. performed meta-analyses transcriptomic covering five major disorders and compared cases controls identify coexpressed gene modules. From this, they found that some share global expression patterns. This in polygenic traits may allow for better diagnosis...
The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how variants impart brain dysfunction or pathology. We used transcriptomic profiling as quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders—autism, schizophrenia, bipolar disorder, depression, alcoholism—compared with matched controls. identified patterns shared distinct gene-expression perturbations...
Abstract Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has demonstrated dysregulation at the molecular level, characterized by transcriptomic and epigenetic alterations 1–3 . In autism spectrum disorder (ASD), this pathology involves upregulation of microglial, astrocyte neural–immune genes, downregulation synaptic attenuation gene-expression gradients in cortex 1,2,4–6 However, whether these changes are limited to cortical association regions or...
<h3>Background</h3> Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert (JBTS), and Meckel-Gruber (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious expensive. overcome the broad genetic locus heterogeneity, strategy DNA pooling with consecutive massively parallel resequencing...
Autism spectrum disorder (ASD) encompasses a collection of complex neuropsychiatric disorders characterized by deficits in social functioning, communication and repetitive behaviour. Building on recent studies supporting role for developmentally moderated regulatory genomic variation the molecular aetiology ASD, we quantified genome-wide patterns DNA methylation 223 post-mortem tissues samples isolated from three brain regions [prefrontal cortex, temporal cortex cerebellum (CB)] dissected 43...
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown patterns of molecular convergence in post-mortem brain tissue from autistic subjects. Here, we integrate genome-wide measures mRNA expression, miRNA DNA methylation, histone acetylation ASD control brains to identify convergent subtype with shared dysregulation across both the epigenome transcriptome. Focusing on subtype,...
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The segregated affected members this family was absent from 92 healthy individuals, thereby identifying recessive CUBN as single-gene cause proteinuria sibship. Cubulin mutations hereditary form megaloblastic anemia secondary to vitamin B(12)...
Abstract Microglia are the resident immune cells in brain that play a key role driving neuroinflammation, hallmark of neurodegenerative disorders. Inducible microglia-like have been developed as an vitro platform for molecular and therapeutic hypothesis generation testing. However, there has no systematic assessment similarity these to primary human microglia along with their responsiveness external cues expected brain. In this study, we performed transcriptional characterization...
Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease defined by motor neuron (MN) loss. Multiple genetic risk factors have been identified, implicating RNA and protein metabolism intracellular transport, among other biological mechanisms. To achieve systems-level understanding of the mechanisms governing ALS pathophysiology, we built gene co-expression networks using RNA-sequencing data from control human spinal cord samples, identifying 13 modules, each which...