NUS Research Brings New Light to Unsolved Genetic Diseases in Children

NUS Research Brings New Light to Unsolved Genetic Diseases in Children

Newswise — The development of an embryo is a well-orchestrated string of processes, ensuring correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes are controlled in a precise manner by switching on or off specific factors such as genes or proteins. Any errors in these processes could … Read more

LGBTQ+ Role Models Are Critical

LGBTQ+ Role Models Are Critical

When my son came out, I found myself quickly learning how to navigate a new world where he might not be given the same rights and opportunities I expected for him. I was lost in a storm of rhetoric and hate pushing back against my child’s future. The world our children are growing up in … Read more

Genetic testing results in lower length of stay in the NICU for infants with epilepsy

Genetic testing results in lower length of stay in the NICU for infants with epilepsy

Genetic testing results in lower length of stay in the neonatal intensive care unit (NICU) for infants with epilepsy, according to a study published in the journal Pediatric Neurology. The reduction in hospital stay time in babies with epilepsy who spent time in the NICU was not explained by changes in the episode of illness, … Read more

The study assesses the effectiveness of telemedicine-based pediatric genetics care

The study assesses the effectiveness of telemedicine-based pediatric genetics care

A new study from researchers at Children’s Hospital of Philadelphia (CHOP) found that using telemedicine to evaluate patients with rare genetic conditions resulted in a similar rate of proper diagnosis as in-person visits. However, collecting genetic material from patients who are seen remotely is more challenging, suggesting there is room to improve telemedicine evaluations. The … Read more

Scientists identify new genetic disease that delays children’s intellectual development

Scientists identify new genetic disease that delays children’s intellectual development

Scientists have identified a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development. The majority of patients with the condition, that is so new it doesn’t have a name yet, have severe learning difficulties which affect their quality of life. An international team of researchers from the universities … Read more

Scientists Discover New Genetic Disease That Delays Brain Development in Children

Scientists Discover New Genetic Disease That Delays Brain Development in Children

Newswise — Scientists have identified a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development. The majority of patients with the condition, that is so new it doesn’t have a name yet, have severe learning difficulties which affect their quality of life. An international team of researchers from … Read more

Combinations of multiple genetic factors play a role in the broad spectrum of autism

Genetic testing results in lower length of stay in the NICU for infants with epilepsy

Autism Spectrum Disorder (ASD) is referred to as a “spectrum” because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have offered clues, identifying genes associated with ASD, but despite finding many pieces to the puzzle, scientists have not yet figured out … Read more

South Carolina researchers tackle health disparities using genetics

South Carolina researchers tackle health disparities using genetics

Quenton Tompkins’ family tree is deeply rooted in rural McCormick County, South Carolina. His grandfather was a sharecropper in McCormick. His mother, who turns 88 this month, grew up as the youngest of 24 children. Branches of aunts, uncles, and cousins ​​now stretch from Florida to Chicago. And although 48-year-old Tompkins has heard plenty of … Read more