From carrying a first-aid kit in first grade to launching a transformative preventive cardiology program, a Rutgers Health ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

For Lisa Hawker, getting a diagnosis of her daughter Jaydi's rare genetic condition was life-saving. Jaydi has a rare form of dwarfism which affects around 50 known people across the world. Her early ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Genetic data show that 14 psychiatric diagnoses cluster into five families of shared risk, explaining why conditions like depression and anxiety often occur together.

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

A sweeping new peer-reviewed study published in Genomic Psychiatry has introduced a concept that could reshape how psychiatrists and geneticists think about mental illness: genetic specificity.

Refsum disease is a rare genetic disorder involving the buildup of a type of fat in your blood and tissues called phytanic acid. This buildup can cause vision loss, hearing loss, and weakness and ...

The Foundation Fighting Blindness, the driving force in the global development of treatments and cures for blinding diseases, will host a free webinar for eye care professionals to explore the ...

Genetic testing can be a fearful, daunting, overwhelming, exciting, or joyful experience. In many cases, the emotions of people who pursue genetic testing can be described with more than just one of ...