Barbara Ruggeri
A5000848306- Autism Spectrum Disorder Research
- Functional Brain Connectivity Studies
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Attention Deficit Hyperactivity Disorder
- Cognitive Abilities and Testing
- Neurotransmitter Receptor Influence on Behavior
- Regulation of Appetite and Obesity
- Reproductive biology and impacts on aquatic species
- Genetic Syndromes and Imprinting
- Stress Responses and Cortisol
- Genetic Associations and Epidemiology
- Congenital heart defects research
- Adipose Tissue and Metabolism
- Neural and Behavioral Psychology Studies
- Substance Abuse Treatment and Outcomes
- Child and Adolescent Psychosocial and Emotional Development
- HIV Research and Treatment
- Sleep and Wakefulness Research
- Obsessive-Compulsive Spectrum Disorders
- Aquaculture Nutrition and Growth
- Sphingolipid Metabolism and Signaling
- Virology and Viral Diseases
- Receptor Mechanisms and Signaling
- Gene expression and cancer classification
Aims Community College
2024
King's College London
2014-2023
University of Cambridge
2015-2020
Shanghai Center for Brain Science and Brain-Inspired Technology
2020
Shanghai Institute for Science of Science
2020
University College Dublin
2019
Medical Research Council
2012-2018
Fudan University
2018
Clinical Research Consortium
2018
Wellcome Centre for Human Neuroimaging
2018
The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular subgroups. Precision medicine approaches aim overcome this challenge by combining pathophysiologically based treatments stratification biomarkers that predict which treatment most beneficial for individuals. However, so far, we have no single validated biomarker ASD. This due fact...
The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). current paper describes clinical characteristics of LEAP cohort and examines age, sex IQ differences in ASD core symptoms common co-occurring psychiatric symptoms. A companion overall design experimental protocol outlines strategy identify stratification biomarkers. From six research centres four countries, we...
Novelty-seeking tendencies in adolescents may promote innovation as well problematic impulsive behaviour, including drug abuse. Previous research has not clarified whether neural hyper- or hypo-responsiveness to anticipated rewards promotes vulnerability these individuals. Here we use a longitudinal design track 144 novelty-seeking at age 14 and 16 determine activity response predicts use. We find that diminished BOLD mesolimbic (ventral striatal midbrain) prefrontal cortical (dorsolateral...
Autism spectrum disorder ("autism") is a highly heterogeneous neurodevelopmental condition with few effective treatments for core and associated features. To make progress we need to both identify validate neural markers that help parse heterogeneity tailor therapies specific neurobiological profiles. Atypical hemispheric lateralization stable feature across studies in autism, but its potential as stratification marker has not been widely examined. In order dissect used the large EU-AIMS...
Abstract Background Understanding the development of neuronal circuitry underlying autism spectrum disorder (ASD) is critical to shed light into its etiology and for treatment options. Resting state EEG provides a window spontaneous local long-range synchronization has been investigated in many ASD studies, but results are inconsistent. Unbiased investigation large comprehensive samples focusing on replicability needed. Methods We quantified resting alpha peak metrics, power (PS, 2–32 Hz)...
Background In the last few years digital dermoscopy has been introduced as an additional tool to improve clinical diagnosis of pigmented skin lesions. Objectives To evaluate validity by comparing diagnoses a dermatologist experienced in (5 experience) with those clinician minimal training this field, and then these results obtained using computer‐aided diagnoses. Methods Three hundred forty‐one melanocytic non‐melanocytic lesions were included. All surgically excised histopathologically...
The firing of mesolimbic dopamine neurons is important for drug-induced reinforcement, although underlying genetic factors remain poorly understood. In a recent genome-wide association metaanalysis alcohol intake, we identified suggestive SNP rs26907 in the ras-specific guanine-nucleotide releasing factor 2 ( RASGRF2 ) gene, encoding protein that mediates Ca 2+ -dependent activation ERK pathway. We performed functional characterization this gene relation to alcohol-related phenotypes and...
Significance We characterize in humans a coordinated network of brain activity describing neurobehavioral correlates reward anticipation. The involves nodes striatal and cortical regions, which are preferentially associated with distinct externalizing behaviors—hyperactivity alcohol consumption—suggesting that the heterogeneity reward-related behaviors might be accounted for by different association patterns their connecting links. In genome-wide study node subsequent functional validation...
This study examines the effects of puberty and sex on intrinsic functional connectivity (iFC) brain networks, with a focus default-mode network (DMN). Consistently implicated in depressive disorders, DMN's function may interact development these whose onsets peak adolescence, which show strong disproportionality (females > males). The main question concerns how DMN evolves as sex. These are expected to involve within- between-network iFC, particularly, salience central-executive consistent...
The orbitofrontal cortex (OFC) is implicated in depression. hypothesis investigated was whether the OFC sensitivity to reward and nonreward related severity of depressive symptoms. Activations monetary incentive delay task were measured IMAGEN cohort at ages 14 years (n = 1877) 19 1140) with a longitudinal design. Clinically relevant subgroups compared (high-severity group: n 116; low-severity 206) 14. medial exhibited graded activation increases reward, lateral had nonreward. In this...
Drug addiction is a chronic relapsing disorder characterized by compulsive drug seeking and use. Environmental conditioning factors are among the major determinants of relapse in abstinent cocaine users. Here we describe role neuropeptide S (NPS) system regulating relapse. In rats with history self-administration, presentation stimuli predictive availability reinstates seeking, triggering Intracerebroventricular (ICV) injection NPS increased conditioned reinstatement whereas peripheral...
Despite the recognition that cortical thickness is heritable and correlates with intellectual ability in children adolescents, genes contributing to individual differences these traits remain unknown. We conducted a large-scale association study 1583 adolescents identify affecting thickness. Single-nucleotide polymorphisms (SNPs; n=54 837) within whose expression changed between stages of growth differentiation human neural stem cell line were selected for analyses average identified...
Objective: The genetic component of alcohol use disorder is substantial, but monozygotic twin discordance indicates a role for nonheritable differences that could be mediated by epigenetics. Despite growing evidence associating epigenetics and psychiatric disorders, it unclear how epigenetics, particularly DNA methylation, relate to brain function behavior, including drinking behavior. Method: authors carried out genome-wide analysis methylation 18 pairs discordant validated differentially...
Alcohol abuse is highly prevalent, but little understood about the molecular causes. Here, we report that Ras suppressor 1 (Rsu1) affects ethanol consumption in flies and humans. Drosophila lacking Rsu1 show reduced sensitivity to ethanol-induced sedation. We required adult nervous system for normal it acts downstream of integrin cell adhesion molecule upstream Ras-related C3 botulinum toxin substrate (Rac1) GTPase regulate actin cytoskeleton. In an preference assay, global loss causes high...
Abstract There is an extensive body of literature linking ADHD to overweight and obesity. Research indicates that impulsivity features account for a degree this overlap. The neural polygenic correlates association have not been thoroughly examined. In participants the IMAGEN study, we found symptoms mass index (BMI) were associated ( r = 0.10, n 874, p 0.014 FWE corrected), as their respective risk scores (PRS) 0.17, 6.5 × 10 −6 corrected). We then examined whether phenotypes BMI, PRS shared...
Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent profile and severity sensory features. Here, we applied factor mixture modelling (FMM) to test a multidimensional model processing ASD. We aimed identify homogeneous subgroups ASD that differ intrinsically their along continuous scores. also investigated relation clinical variables: sex, age, IQ, social-communication symptoms, restricted repetitive behaviours, adaptive functioning symptoms anxiety...