Attached to nearly every human cell is an antenna-like structure known as the primary cilium, which senses the cell's ...

GeneDx CEO Katherine Stueland explains how her company screens babies’ DNA for mutations that cause thousands of treatable ...

Artificial Intelligence (AI) is significantly impacting the healthcare sector, particularly in diagnosing rare diseases. One of the most intriguing advancements is AI’s newfound ability to detect ...

Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare ...

Gene therapies for rare diseases are frequently developed then discarded by drug companies because they can’t afford to ...

If future studies confirm the rescued receptors work normally, the study offers a new roadmap for rare disease drug development.

According to the National Organization for Rare Disorders, the condition is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including weakness and stiffness, abnormal ...

Cade was diagnosed with a rare, neurodegenerative disease when he was 2½. Now 4, Cade has been receiving treatment for the past few years — crucial to keep him strong — but the program he's in has ...

BALTIMORE (WKRC/CNN Newsource) - A rare case of New World screwworm has been confirmed in the United States. The case identified in Maryland originated from a patient who recently traveled to El ...

The new study adds to a mountain of evidence that autism is genetic, with up to 80 percent of cases linked to inherited gene ...

(CNN) — A rare case of travel-related New World screwworm was identified in Maryland in a patient who traveled from El Salvador, a spokesman from the US Department of Health and Human Services said.