A rare genetic deficiency that can cause developmental delays, intellectual disability, seizures and movement disorders will ...

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

Congenital heart disease (CHD) is one of the most common birth defects, but the full extent of its genetic underpinnings has been a mystery. Now, a new study of more than 11,000 children with CHD ...

The heart and brain are among the earliest and most metabolically demanding organs in human development. Though historically studied in isolation, both ...

A recent study published in Frontiers in Genetics demonstrates that combining copy number variants sequencing (CNVs-seq) and whole exome sequencing (WES) is effective in detecting congenital heart ...

Inherited muscle diseases, such as muscular dystrophies and congenital myopathies, arise from genetic mutations that disrupt the structure or function of myofibers, their surrounding niche, or the ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

Glycosylation disorders encompass a spectrum of inherited conditions arising from defects in the assembly, modification or attachment of carbohydrate chains (glycans) to proteins and lipids. These ...

Observed annually on July 25 in honor of Rosalind Franklin, whose work contributed to the discovery of DNA's structure, ...

Congenital muscular dystrophy (CMD) is a disease that affects certain muscles. Individuals with CMD may experience symptoms such as muscle weakness and joint problems. “Congenital” means present since ...

Cousin marriages, especially common in Pakistan and parts of the Middle East and South Asia, increase the likelihood of inherited genetic disorders because closely related parents may carry the same ...

A new study from Mount Sinai presents a novel methodology for investigating digenic inheritance in human disease, identifying gene pairs involved in congenital heart disease. “Our research reveals the ...