Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

Research on Tourette’s indicates that the condition is strongly influenced by inherited genetic factors, with environmental factors also contributing to its development. Tourette syndrome is a ...

When 18 individuals with overlapping symptoms were left without a unifying diagnosis, Yale’s Saquib Lakhani and Lauren Jeffries joined forces with researchers around the world to discern the genetic ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

A newly developed AI can predict which diseases specific genetic mutations are likely to cause, not just whether they are ...