Fernando S. Goes
A5051850972- Bipolar Disorder and Treatment
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Adolescent and Pediatric Healthcare
- Obsessive-Compulsive Spectrum Disorders
- Tryptophan and brain disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Treatment of Major Depression
- Mental Health Research Topics
- Electroconvulsive Therapy Studies
- Genomics and Rare Diseases
- Schizophrenia research and treatment
- Eating Disorders and Behaviors
- Bioinformatics and Genomic Networks
- Single-cell and spatial transcriptomics
- Suicide and Self-Harm Studies
- Digital Mental Health Interventions
- Child and Adolescent Psychosocial and Emotional Development
- Birth, Development, and Health
- RNA Research and Splicing
- Functional Brain Connectivity Studies
- Pancreatic and Hepatic Oncology Research
Johns Hopkins University
2016-2025
Johns Hopkins Medicine
2016-2025
University of Baltimore
2022
Genomics (United Kingdom)
2022
Mayo Clinic in Florida
2020-2021
Pine Rest Christian Mental Health Services
2021
National Academy of Medicine
2014-2020
University of Michigan
2020
Emory University
2020
Jackson Memorial Hospital
2020
Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments transcriptomic organization diseased brains are limited. In this work, we integrated genotypes RNA sequencing brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, bipolar disorder, as well controls. More than 25% the transcriptome exhibits differential splicing or expression,...
Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource adult brain across 1866 individuals. The contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles many cell types; quantitative-trait loci (QTLs); further QTLs associated with chromatin, splicing, cell-type...
Objective The assessment of response to lithium maintenance treatment in bipolar disorder (BD) is complicated by variable length treatment, unpredictable clinical course, and often inconsistent compliance. Prospective retrospective methods have been proposed the literature. In this study we report key phenotypic measures “Retrospective Criteria Long-Term Treatment Response Research Subjects with Bipolar Disorder” scale currently used Consortium on Lithium Genetics (ConLiGen) study. Materials...
Pancreatic cancer is projected to become the second leading cause of cancer-related death in United States by 2020. A familial aggregation pancreatic has been established, but this most families unknown. To determine genetic basis susceptibility these families, we sequenced germline genomes 638 patients with and tumor exomes 39 adenocarcinomas. Our analyses support role previously identified genes such as BRCA2, CDKN2A, ATM, identify novel candidate harboring rare, deleterious variants for...
Genes implicated in neuropsychiatric disorders are active human fetal brain, yet difficult to study a longitudinal fashion. We demonstrate that organoids from pluripotent cells model cerebral cortical development on the molecular level before 16 weeks postconception. A multiomics analysis revealed differentially genes and enhancers, with greatest changes occurring at transition stem progenitors. Networks of converging gene enhancer modules were assembled into six four global patterns...
Electroconvulsive therapy (ECT) and subanesthetic intravenous ketamine are both currently used for treatment-resistant major depression, but the comparative effectiveness of two treatments remains uncertain.We conducted an open-label, randomized, noninferiority trial involving patients referred to ECT clinics depression. Patients with depression without psychosis were recruited assigned in a 1:1 ratio receive or ECT. During initial 3-week treatment phase, received either three times per week...
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference supporting genomic analyses through semantic similarity machine learning algorithms. HPO has widespread applications in clinical diagnostics translational research, including diagnostics, gene-disease discovery, cohort analytics. In recent years, groups around world have developed translations from English...
The complexity and heterogeneity of schizophrenia have hindered mechanistic elucidation the development more effective therapies. Here, we performed single-cell dissection schizophrenia-associated transcriptomic changes in human prefrontal cortex across 140 individuals two independent cohorts. Excitatory neurons were most affected cell group, with transcriptional converging on neurodevelopment synapse-related molecular pathways. Transcriptional alterations included known genetic risk...
Nucleotide changes in gene regulatory elements are important determinants of neuronal development and diseases. Using massively parallel reporter assays primary human cells from mid-gestation cortex cerebral organoids, we interrogated the cis-regulatory activity 102,767 open chromatin regions, including thousands sequences with cell type-specific accessibility variants associated brain regulation. In cells, identified 46,802 active enhancer 164 that alter activity. Activity was comparable...
The molecular organization of the human neocortex historically has been studied in context its histological layers. However, emerging spatial transcriptomic technologies have enabled unbiased identification transcriptionally defined domains that move beyond classic cytoarchitecture. We used Visium gene expression platform to generate a data-driven neuroanatomical atlas across anterior-posterior axis dorsolateral prefrontal cortex. Integration with paired single-nucleus RNA-sequencing data...
Neuropsychiatric genome-wide association studies (GWASs), including those for autism spectrum disorder and schizophrenia, show strong enrichment regulatory elements in the developing brain. However, prioritizing risk genes mechanisms is challenging without a unified atlas. Across 672 diverse human brains, we identified 15,752 harboring gene, isoform, and/or splicing quantitative trait loci, mapping 3739 to cellular contexts. Gene expression heritability drops during development, likely...
A study of genome-wide gene expression in major depressive disorder (MDD) was undertaken a large population-based sample to determine whether altered levels genes and pathways could provide insights into biological mechanisms that are relevant this disorder. Gene studies have the potential detect changes may be because differences common or rare genomic sequence variation, environmental factors their interaction. We recruited European ancestry 463 individuals with recurrent MDD 459 controls,...