Fabìo Macciardi
A5070184927- Genetic Associations and Epidemiology
- Bipolar Disorder and Treatment
- Schizophrenia research and treatment
- Neurotransmitter Receptor Influence on Behavior
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Functional Brain Connectivity Studies
- Tryptophan and brain disorders
- Epigenetics and DNA Methylation
- Receptor Mechanisms and Signaling
- Bioinformatics and Genomic Networks
- Genomics and Rare Diseases
- Obsessive-Compulsive Spectrum Disorders
- Alzheimer's disease research and treatments
- Mental Health Research Topics
- Neuroscience and Neuropharmacology Research
- Health, Environment, Cognitive Aging
- Attention Deficit Hyperactivity Disorder
- Child and Adolescent Psychosocial and Emotional Development
- Chromosomal and Genetic Variations
- Advanced Neuroimaging Techniques and Applications
- Amino Acid Enzymes and Metabolism
- Pharmacogenetics and Drug Metabolism
- Hormonal Regulation and Hypertension
University of California, Irvine
2015-2024
University of Bologna
2023
Arrowhead Regional Medical Center
2023
Max Planck Institute for Psycholinguistics
2019
University of Milan
2006-2016
Center for Autism and Related Disorders
2014-2016
Harvard University
2014
Massachusetts General Hospital
2014
Center for Human Genetics
2014
Broad Institute
2014
The profile of brain structural abnormalities in schizophrenia is still not fully understood, despite decades research using scans. To validate a prospective meta-analysis approach to analyzing multicenter neuroimaging data, we analyzed MRI scans from 2028 patients and 2540 healthy controls, assessed with standardized methods at 15 centers worldwide. We identified subcortical volumes that differentiated ranked them according their effect sizes. Compared had smaller hippocampus (Cohen's...
A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia. DNA 213 schizophrenic patients and 241 normal individuals Canada were genotyped with this marker set. Two 1,400- 65-kb regions contained markers associated the disease. region also found be schizophrenia in Russian sample. overlapping genes G72 G30 transcribed brain experimentally annotated region. Transfection experiments point existence...
Background With the exception of APOE ε4 allele, common genetic risk factors for sporadic Alzheimer's Disease (AD) are unknown. Methods and Findings We completed a genome-wide association study on 381 participants in ADNI (Alzheimer's Neuroimaging Initiative) study. Samples were genotyped using Illumina Human610-Quad BeadChip. 516,645 unique Single Nucleotide Polymorphisms (SNPs) included analysis following quality control measures. The genotype data raw freely available download (LONI,...
The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify attributable all interrogated variants. We have quantified variance liability disease explained by SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded point estimate 0.58 (se = 0.09, p 5.64e-12) TS, 0.37...
Focal segmental glomerulosclerosis is a kidney disease that manifested as the nephrotic syndrome. It often resistant to glucocorticoid therapy and progresses end-stage renal in 50 70% of patients. Genetic studies have shown familial focal podocytes, which are major components glomerular filtration barrier. However, molecular cause over half cases primary unknown, effective treatments been elusive.
Background: Genome-wide association studies (GWASs) are increasingly used to identify risk genes for complex illnesses including schizophrenia. These may require thousands of subjects obtain sufficient power. We present an alternative strategy with increased statistical power over a case-control study that uses brain imaging as quantitative trait (QT) in the context GWAS Methods: Sixty-four chronic schizophrenia and 74 matched controls were recruited from Functional Biomedical Informatics...
Five genetic variants that affect Na,K-ATPase interactions predict the blood pressure response to rostafuroxin but not losartan and hydrochlorothiazide.
Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex remains elusive. The authors report a combined genome-wide association study (GWAS) OCD. Method: conducted GWAS in 2,723 cases (1,310 with OCD, 834 syndrome, 579 OCD plus syndrome/chronic tics), 5,667 ancestry-matched controls, 290...
Recently we have witnessed a surge of interest in using genome-wide association studies (GWAS) to discover the genetic basis complex diseases. Many variations, mostly form single nucleotide polymorphisms (SNPs), been identified wide spectrum diseases, including diabetes, cancer, and psychiatric A common theme arising from these is that variations discovered by GWAS can only explain small fraction risks associated with New strategies statistical approaches are needed address this lack...
Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions individuals worldwide. While rare genetic variants play role in the etiology schizophrenia, most currently explained liability within common variation, suggesting that variation predating human diaspora out Africa harbors large fraction variant attributable heritability. However, association studies schizophrenia have concentrated mainly on cohorts European descent. We describe...
One of the features that distinguishes modern humans from our extinct relatives and ancestors is a globular shape braincase [1-4]. As endocranium closely mirrors outer brain, these differences might reflect altered neural architecture [4, 5]. However, in absence fossil brain tissue, underlying neuroanatomical changes as well their genetic bases remain elusive. To better understand biological foundations human endocranial shape, we turn to closest relatives: Neandertals. Interbreeding between...