Rare & Genetic Diseases

A search for a new cancer mouse model turned into the first ever treatment for a rare disease called venous malformations.

Flexible research tools help meet the evolving needs of next generation sequencing technology. 

Innovative carriers and delivery strategies may improve gene therapy efficacy and safety.

Genome-wide CRISPR screens in living organisms reveal mechanisms that cell culture studies overlook.

Alpha thalassemia was once a fatal diagnosis. Now, a clinical trial tests if administering a mother’s stem cells in utero may cure kids before they’re born.

A collaboration of nephrologists and biochemists created the first structure of “megalin,” a critical protein in kidney and brain disorders.

Advanced biomedical technologies deliver new possibilities for studying complex biological systems.

Scientists tackle AAV gene therapy hurdles, from enhancing efficiency to managing immunogenicity  to improve AAV gene therapy efficacy and safety.

By analyzing the changing genomes of short- and long-lived rockfish, scientists identified a new set of genes that might alter lifespan.

Forty years after the Orphan Drug Act passed, researchers advance drug development for neglected rare conditions everywhere from the lab bench to backstage.

Legislation now allows some drugs to skip animal testing, but it’s unclear when, if ever, this step will be gone for good.

For cases where gene editing simply won’t work, biochemist Aseem Ansari is working on a new idea: changing how cells regulate genes.