With the data of 530 patients from 28 institutions across 15 states, access to researchers to develop treatments adds to the existing knowledge base for the rarest of diseases ...

A promising footballer has died after contracting a rare rodent virus. Matías Uribe Nova, 22, was volunteering to help people ...

Even when promising clinical trials exist, and the FDA allows expanded access, rare disease patients like my granddaughter are often left out.

Nearly 30 years ago, researchers began studying the gene Astn1, which encodes the cell adhesion protein astrotactin 1 in mice ...

When we think about iron imbalance, most people are familiar with iron deficiency and the health problems it can cause. What ...

There are only two surviving white giraffes in the world. Discover how leucism in giraffes affects their appearance and ...

Scientists analyzing ancient DNA from a 12,000-year-old double burial in southern Italy uncovered genetic evidence of a rare inherited growth disorder in two closely related prehistoric individuals. A ...

Stemming from a rare genetic condition, Brian Tobin has had cancer six times since the age of 25. However, he says people can survive and thrive despite this challenge ...

A discovery beneath Kolsåstoppen, a forested hill in eastern Norway, is drawing new attention to rock carvings created more ...

This video explores a wide range of human traits and characteristics by examining how common or rare they are across the global population. Using statistics and percentages, it moves from widely ...

Catherine O'Hara's heart and organs were a mirror image of most people's. Though that is rare, congenital heart defects are fairly common.

I didn't know it was possible for fingers to not have fingerprints. View Entire Post › ...