Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Comparing emergency department versus high school-based recruitment for a hypertension research study with adult-youth dyads.

Dyads can be challenging to recruit for research studies, but detailed reporting on strategies employed to recruit adult-adolescent dyads is rare. We describe experiences recruiting adult-youth dyads for a hypertension education intervention comparing recruitment in an emergency department (ED) setting with a school-based community setting. We found more success in recruiting dyads through a school-based model that started with adolescent youth (19 dyads in 7 weeks with < 1 hour recruitment) compared to an ED-based model that started with adults (2 dyads in 17 weeks with 350 hours of recruitment).

A highly reproducible and efficient method for retinal organoid differentiation from human pluripotent stem cells.

Human pluripotent stem cell (hPSC)-derived retinal organoids are three-dimensional cellular aggregates that differentiate and self-organize to closely mimic the spatial and temporal patterning of the developing human retina. Retinal organoid models serve as reliable tools for studying human retinogenesis, yet limitations in the efficiency and reproducibility of current retinal organoid differentiation protocols have reduced the use of these models for more high-throughput applications such as disease modeling and drug screening. To address these shortcomings, the current study aimed to standardize prior differentiation protocols to yield a highly reproducible and efficient method for generating retinal organoids.

The Obesity Paradox in the Pediatric Trauma Patient.

Background: Obesity is a chronic disease that adversely impacts patient outcomes and increasingly affecting the pediatric population. According to the CDC, in 2020 the prevalence of obesity among children and adolescents was estimated to be as high as 19.7%.