People typically die from progressive supranuclear palsy within 7 to 10 years. There is currently no specialized treatment or effective screening for this neurodegenerative disease.

Sickle cell disease—the subject of a new Seminar in The Lancet—is one of the most prevalent and fastest-growing genetic disorders worldwide. Although its true prevalence is difficult to determine ...

A new study published in Neurology, led by Queen Mary University of London, has revealed that people of South Asian, African ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

Abstract: DNA sequence analysis has the potential to greatly help in the early diagnosis of inherited diseases. Most of the current approaches have limited ability to be used for other genetic ...

Scientists at UC Berkeley have discovered a microbe that bends one of biology’s most sacred rules. Instead of treating a specific three-letter DNA code as a clear “stop” signal, this methane-producing ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought. When you purchase through links on our site, we may earn an affiliate commission.

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 ...

Daphne O. Martschenko and Sam Trejo both want to make the world a better, fairer, more equitable place. But they disagree on whether studying social genomics—elucidating any potential genetic ...

Recent research has identified a substantial genetic overlap between the risk of developing major depressive disorder and the biological regulation of testosterone levels. The analysis suggests that ...

NEW YORK – A gene therapy developed by scientists at the University of California, San Diego, (UCSD) has shown promise for treating the rare lysosomal storage disorder cystinosis within a small ...