Massive Swedish study of over two million people reveals that genetic risk for mental illness often points toward ...

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

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.

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

A Rocket Pharmaceuticals gene therapy has reached the end of its regulatory journey before receiving an FDA decision. The company has withdrawn the submission for its therapeutic candidate for Fanconi ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

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 ...

Adrenal insufficiency encompasses a spectrum of disorders in which the adrenal glands fail to produce adequate amounts of steroid hormones, notably glucocorticoids and, in some cases, ...

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.