Celia van der Merwe
A5077615112- Autism Spectrum Disorder Research
- Genetic Associations and Epidemiology
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Health, Environment, Cognitive Aging
- Evolution and Genetic Dynamics
- Nuclear Receptors and Signaling
- Genetic Neurodegenerative Diseases
- SARS-CoV-2 and COVID-19 Research
- Respiratory viral infections research
- Functional Brain Connectivity Studies
- Williams Syndrome Research
- Schizophrenia research and treatment
- Obsessive-Compulsive Spectrum Disorders
- Trypanosoma species research and implications
- Mitochondrial Function and Pathology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neurotransmitter Receptor Influence on Behavior
- Neurological diseases and metabolism
- Underground infrastructure and sustainability
- Infrastructure Maintenance and Monitoring
- SARS-CoV-2 detection and testing
Broad Institute
2018-2025
Massachusetts General Hospital
2020-2025
University of Cape Town
2017-2024
South African Tuberculosis Vaccine Initiative
2024
South African Medical Research Council
2024
Harvard University
2018-2022
Radboud University Nijmegen
2019
The University of Melbourne
2019
Stellenbosch University
2011-2016
Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males than females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences common inherited genetic risk for ASD are less studied, particularly within families. Leveraging the Danish iPSYCH resource, we found siblings cases (n = 1,707) had higher rates male 6,270; p < 1.0 × 10−10). In Simons Simplex and SPARK collections, mothers 7,436) carried polygenic...
Africa, the ancestral home of all modern humans, is most informative continent for understanding human genome and its contribution to complex disease. To better understand genetics schizophrenia, we studied illness in Xhosa population South recruiting 909 cases 917 age-, gender-, residence-matched controls. Individuals with schizophrenia were significantly more likely than controls harbor private, severely damaging mutations genes that are critical synaptic function, including neural...
Abstract The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations the proximal genes through which they act. In contrast, in present study we demonstrate feasibility of extracting biological insights from a very large region genome and leverage this strategy influences on autism. Using new statistical approach, identified 33-Mb p-arm chromosome 16 (16p) as harboring greatest excess autism’s common polygenic influences. also...
Abstract Airborne transmission of SARS-CoV-2 aerosol remains contentious. Importantly, whether cough or breath-generated bioaerosols can harbor viable and replicating virus largely unclarified. We performed size-fractionated sampling (Andersen cascade impactor) evaluated viral culturability in human cell lines (infectiousness), genetics, host immunity ambulatory participants with COVID-19. Sixty-one percent (27/44) 50% (22/44) emitted variant-specific culture-positive aerosols <10μm...
Mutations in the parkin gene are most common cause of early-onset Parkinson’s disease (PD). Parkin, an E3 ubiquitin ligase, is involved respiratory chain function, mitophagy, and mitochondrial dynamics. Human cellular models with null mutations particularly valuable for investigating functions parkin. However, published results reporting on patient-derived -mutant fibroblasts have been inconsistent. This study aimed to functionally compare from PD patients wild-type control using a variety...
This review summarizes the last decade of work by ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance over 1,400 scientists across 43 countries, studying human brain in health and disease. Building on large-scale genetic studies that discovered first robustly replicated loci associated with metrics, has diversified into 50 working groups (WGs), pooling worldwide data expertise to answer fundamental questions neuroscience, psychiatry, neurology,...
Presence of developmental delays in autism is well established, yet few studies have characterized variability milestone attainment this population.To characterize the age at which autistic individuals attain key milestones based on co-occurring intellectual disability (ID), presence a rare disruptive genetic variant associated with neurodevelopmental disorders (NDD), diagnosis, and research cohort membership.The study team harmonized data from 4 cross-sectional cohorts: Autism Genetics...
There have been considerable recent advances in understanding the genetic architecture of Tourette syndrome (TS) as well its underlying neurocircuitry. However, mechanisms by which variation that increases risk for TS-and main symptom dimensions-influence relevant brain regions are poorly understood. Here we undertook a genome-wide investigation overlap between TS and influences on volume specific subcortical structures implicated TS. We obtained summary statistics most association study...
Parkinson's disease (PD), defined as a neurodegenerative disorder, is characterized by the loss of dopaminergic neurons in substantia nigra midbrain. Loss-of-function mutations parkin gene are major cause autosomal recessive, early-onset PD. Parkin has been implicated maintenance healthy mitochondria, although previous studies show conflicting findings regarding mitochondrial abnormalities fibroblasts from patients harboring parkin-null mutations. The aim present study was to determine...
Genetic association studies have made significant contributions to our understanding of the etiology neurodevelopmental disorders (NDDs). However, these rarely focused on African continent. The NeuroDev Project aims address this diversity gap through detailed phenotypic and genetic characterization children with NDDs from Kenya South Africa. We present results NeuroDev's first year data collection, including phenotype 206 cases clinical analyses 99 parent-child trios. Most met criteria for...
Background. Neurodegenerative disorders such as Parkinson's disease (PD) contribute significantly to global burden. PD can be categorised into early-onset (EOPD) with an age at onset (AAO) of ≤50 years and late-onset (LOPD) AAO 50 years. Aims. To identify factors influencing EOPD LOPD development in a group patients South Africa (SA). Methods. A total 397 unrelated were recruited from the Movement Disorders Clinic Tygerberg Hospital via Association SA. Patient demographic environmental data...
Abstract Autism spectrum disorder (ASD) is diagnosed 3-4 times more frequently in males than females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences common, inherited genetic risk for ASD are less studied. Leveraging the nationally representative Danish iPSYCH resource, we found siblings cases had higher rates male ( P < 0.01). In Simons Simplex and SPARK collections, mothers carried polygenic fathers = 7.0 × 10 −7 ). Male...
Neuropsychiatric disorders are a major contributor to functional impairment and mortality in low-income middle-income (LMIC) settings, such as sub-Saharan Africa.1Patel V Chisholm D Parikh R et al.Addressing the burden of mental, neurological, substance use disorders: key messages from Disease Control Priorities.Lancet. 2016; 387 (3rd edition): 1672-1685Summary Full Text PDF PubMed Scopus (408) Google Scholar Given increasing population size life expectancy this region, years lived with...
Abstract Seemingly paradoxical characteristics of psychiatric disorders, including moderate to high prevalence, reduced fecundity, and heritability have motivated explanations for the persistence common risk alleles severe phenotypes throughout human evolution. Proposed mechanisms include balancing selection, drift, weak polygenic adaptation acting either directly, or indirectly through selection on correlated traits. While many been proposed, few empirically tested. Leveraging publicly...