Rare & Genetic Diseases

Biobanking gives scientists access to thousands of biological samples, moving precision medicine one step closer to reality.

Alnylam Pharmaceuticals develops therapeutics based on the RNA interference (RNAi) pathway discovered in 1998.

Paolo Martini leads the biotech company’s rare disease research program with the hope of developing the very first treatments for genetic metabolic disorders.

Gene therapy has a complicated history, marked by many ups and downs and crafted by ever-advancing technologies.

Scientists identified specific genes that confer protection or vulnerability to various infections, pointing the way to new treatments.

Experts discussed the major hurdles of AAV gene therapy, including immunogenicity, vector design, and AAV variability.

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.

A new porcine model for the rare neurological disorder CLN3 Batten disease more faithfully recreates human symptoms and could accelerate drug development.

Transgenic mice play pivotal roles in scientific and therapeutic discovery, but how did they become a staple model system?

Injecting muscle-derived cells into the tongue could help alleviate swallowing difficulties caused by head and neck cancer treatment.

Microscopy images reveal the structural change that enlarges an ion channel pore, opening new directions in drug discovery and delivery.

Discover causes, treatments, and patient-driven solutions for chronic hiccups, a rare and mysterious condition.