human genetics

Collaboration to leverage Oxford Nanopore’s sequencing platform and Cepheid’s GeneXpert system to advance the field of sequencing for infectious diseases.

The FDA approved two new medications for Niemann-Pick disease type C that improve symptoms, showing the power of community advocacy.

Researchers discovered a new gene required for pancreas development, but much to their surprise, they found that it was absent in all animals except primates.

Scientists unravel the complexity of RNA editing to gain insights into neurodevelopmental processes and disorders.

Researchers use fruit flies to figure out how genetic mutations disrupt biology and how drugs might reverse these effects.