Northwestern Medicine scientists have discovered how molecular "traffic controllers" in cells influence aging and cellular senescence—a state where cells stop dividing but remain metabolically active.

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 ...

Claudia Gonzaga-Jauregui studies molecular diagnostics of rare genetic disorders using genome sequencing and family-based analyses to better understand variants that cause disease. Gonzaga-Jauregui is ...

In a recent blog, I discussed the change in nomenclature for the conditions formerly known as Neurofibromatosis type 2 (NF2) and schwannomatosis. This change was based on the results of an ...