A5075253342- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA Research and Splicing
- RNA modifications and cancer
- Neuroendocrine regulation and behavior
- Genomics and Rare Diseases
- Congenital Anomalies and Fetal Surgery
- Cardiomyopathy and Myosin Studies
- CRISPR and Genetic Engineering
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Pluripotent Stem Cells Research
- Cancer-related Molecular Pathways
- Ocular Oncology and Treatments
- Genetics and Neurodevelopmental Disorders
- Receptor Mechanisms and Signaling
- RNA Interference and Gene Delivery
- Circadian rhythm and melatonin
- Hemoglobinopathies and Related Disorders
- Ubiquitin and proteasome pathways
- Mindfulness and Compassion Interventions
- Evolutionary Psychology and Human Behavior
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
National University of Singapore
2015-2024
National University Health System
2010-2024
Genome Institute of Singapore
2020-2022
Khoo Teck Puat Hospital
2021
National University Hospital
2003-2021
Agency for Science, Technology and Research
2020
Asia harbors substantial cultural and linguistic diversity, but the geographic structure of genetic variation across continent remains enigmatic. Here we report a large-scale survey autosomal from broad sample Asian human populations. Our results show that ancestry is strongly correlated with affiliations as well geography. Most populations relatedness within ethnic/linguistic groups, despite prevalent gene flow among More than 90% East (EA) haplotypes could be found in either Southeast...
Trust underpins much of social and economic exchanges across human societies. In experimental economics, the Game has served as workhorse for study trust in a controlled incentivized setting. Recent evidence using intranasal drug administration, aka 'sniffing', suggests that oxytocin (OT) can function hormone facilitating other affiliative behaviors. Here we hypothesized baseline plasma OT is biomarker partially predicts degree trustworthiness observed game. Using large sample 1,158...
Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification carriers heritable mutations can improve disease outcome management. In this study, mutational analysis was conducted on fifty-nine matched tumor peripheral blood samples from 18 bilateral 41 unilateral unrelated RB cases combinatorial approach Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy...
Prolonged demands on the attention system can cause a decay in performance over time known as time-on-task effect. The inter-subject differences rate of this decline are large, and recent efforts have been made to understand biological bases these individual differences. In study, we investigate genetic correlates effect, well its accompanying changes subjective fatigue mood. N = 332 subjects performed 20-minute test sustained (the Psychomotor Vigilance Test) rated their states before after...
Significance Maternal care plays an important role in the development of offspring’s social behaviors through programming relevant neural and hormonal systems. However, it is unclear how specific maternal behaviors, such as breastfeeding genetic variation related to oxytocin system, contribute emerging human infants. We therefore examined infants’ attention emotional eyes. Our results revealed that infants with genotype previously associated decreased availability increased rate autism were...
Gene modification therapies (GMTs) are slowly but steadily making progress toward clinical application. As the majority of rare diseases have an identified genetic cause, and as collectively affect 5% global population, it is increasingly important to devise gene correction strategies address root causes most devastating these provide access novel affected populations. The main barriers providing greater GMTs continue be prohibitive cost developing drugs at clinically relevant doses,...
Small fiber neuropathy (SFN) is clinically and etiologically heterogeneous. Although autoimmunity has been postulated to be pathophysiologically important in SFN, few autoantibodies have described. We aimed identify associated with idiopathic SFN (iSFN) by a novel high-throughput protein microarray platform that captures expressed the native conformational state.Sera from 58 patients 20 age- gender-matched healthy controls (HCs) were screened against >1,600 immune-related antigens....
Objective Use next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders the Asian setting. Design A study conducted between 2014 and 2019 (and ongoing) under Singapore Undiagnosed Disease Program. Date of last analysis was 1 July 2019. Setting Inpatient outpatient genetics service at two large academic centres Singapore. Patients Inclusion criteria: disorders, based on abnormal antenatal ultrasound, multiple congenital anomalies...
The concept of vulnerability has played an important role in theoretical bioethics as well numerous authoritative guidelines on research ethics. helps to identify situations which participants and other individuals may be at a heightened risk experiencing harm. However, existing guidance documents the ethics human germline gene editing largely fail make any reference considerations vulnerability. In this article, we discuss oversight highlight that can play ethical debates about heritable...
Antisense oligonucleotides (AONs) mediated exon skipping offers potential therapy for Duchenne muscular dystrophy. However, the identification of effective AON target sites remains unsatisfactory lack a precise method to predict their binding accessibility. This study demonstrates importance co-transcriptional pre-mRNA folding in determining accessibility induction selective DMD. Because transcription and splicing occur tandem, AONs must bind before factors. Furthermore, forms transient...
Antisense oligonucleotide (AON)-mediated exon skipping to restore dystrophin expression in Duchenne muscular dystrophy (DMD) therapy shown promise a number of human clinical trials. Current AON design methods are semi-empirical, involving either trial-and-error and/or preliminary experimentations. Therefore, rational approach efficient AONs address the wide spectrum patients' mutations is desirable. Retrospective studies have extracted many variables, but they were not tested prospectively...
In a graying world, there is an increasing interest in correlates of aging, especially those found early life. Leukocyte telomere length (LTL) emerging marker aging at the cellular level, but little known regarding its link with poor decision making that often entails being overly impatient. Here we investigate relationship between LTL and degree impatience, which measured laboratory using incentivized delay discounting task. sample 1,158 Han Chinese undergraduates, observe steeper...