Advances in medical care have seen children and young people with rare and life shortening conditions, living longer. This is the case for those living with Duchenne Muscular Dystrophy, whose life expectancy has doubled over the last few decades from around 20 to 40 years. Improving care has tended to focus on the physical aspects of the…

Reading is a fundamental human capacity that recruits and tunes brain circuitry subserving several neurocognitive skills. Individual differences in reading-related skills are largely influenced by genetic variation. However, the molecular basis of the heritability of reading-related skills remains narrowly replicated. Genome-wide association…

Collaborative problem-solving (CPS) is increasingly essential in both scientific practice and modern education, yet remains difficult to embed authentically in classrooms. This study addressed that gap by integrating CPS into a ninth-grade biology lesson using a smartphone-based asymmetric simulation. The innovative three-phase instructional…

The existence of learning resources based on local phenomena is presumed to be able to optimize genetic learning processes. The purposes of this study were (1) to produce module based on the blue eyes phenomenon occurred in Buton Island for genetic material in senior high school and (2) to find the quality of the module produced. This study used…

During the COVID-19 pandemic, various applications of genetics were used as a basis for studying the origin of the virus to diagnosing patients with this disease. Student literacy about COVID-19 from the genetic aspect will strengthen them in dealing with misinformation in a society that rejects the existence of COVID-19. This study aimed to…

This mini-review attempts to provide a capsule overview of the role of genetic factors in reading and its development across languages and writing systems. The review is conceived and executed with a scoping review approach, synthesizing the methods employed in the existing research rather than producing a summary of evidence to answer a discrete…

Background: Due to the risk of cross-contamination and the enforcement of strict infection control guidelines, patients with cystic fibrosis (CF) and their families have engaged in social and physical distancing for the past decade and a half. Family members, such as parents, are considered to be a critical component of patients' lives. Objective:…

Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4022) with a confirmed…

The purpose of the manuscript is to present to academic teachers, doctors and nutritionists how practical online classes with dietetics students can be used to develop ready-made tools at work and for the education of phenylketonuria (PKU) patients and their caregivers/parents. During online classes in 2020, as part of the subject--diet therapy of…

The CRISPR/Cas9 system opens new horizons (M. Adli, Nat Commun, 2018) regarding genetic modifications of living organisms but also as an in vitro tool in laboratory protocols. Therefore, it boosts possibilities in research and future medical treatments. As the controversial claim of genomically edited babies by He Jiankui (Cyranoski D., Nature,…

The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our…

Individuals with Autism Spectrum Disorder (ASD) and the Broad Autism Phenotype (BAP) are more likely than individuals with typical development (TD) to report a sexual minority orientation (e.g., Bejerot and Eriksson, PLoS ONE 9:1-9, 2014; DeWinter et al., Journal of Autism and Developmental Disorders 47:2927-2934, 2017; Qualls et al., Journal of…

Relative quantification is a popular analysis in gene expression studies using quantitative real-time PCR (qPCR). However, the calculation steps using the major algorithms for this analysis are rather complicated. In this study, we developed an easy-to-use spreadsheet-based method for relative quantification. The inputs from end-users are the…

Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…

This study investigated the systematic rise in cognitive ability scores over generations, known as the "Flynn Effect," across middle childhood and early adolescence (7-15 years; 291 monozygotic pairs, 298 dizygotic pairs; 89% White). Leveraging the unique structure of the Louisville Twin Study (longitudinal data collected continuously…