Cancer, heart disease, the common cold — these medical conditions are well-known by the public, in part, because they affect large numbers of people. But did you know there's a genetic condition that causes babies to suddenly lose all their fat after birth? Or an aggressive autoimmune disorder that can cause the bridge of the nose to collapse? Or a disease that causes the skin to blister under even the lightest pressure? Every week at Live Science, we call attention to a rare disorder that may not be widely known, describing its symptoms, treatments, causes and recent cases that caught our attention.
Latest about rare diseases
POLG diseases: Rare genetic conditions that starve cells of energy and afflicted the late Prince of Luxembourg
POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
The rare genetic disorder that causes severe itchiness and liver failure
Patients with PFIC develop liver failure as a result of a buildup of a digestive fluid known as bile.
The deadly 'black fungus' infection that decimates flesh
Most people are exposed to the fungi that cause mucormycosis regularly, but in certain individuals, these microbes can cause a potentially deadly infection.
Norrie disease: The rare genetic disorder that makes people go blind and deaf
Only around 500 cases of Norrie disease, a genetic condition, have been reported worldwide.
The exceptionally rare disease that causes holes to form in your brain
Creutzfeldt-Jakob disease is an extremely rare and fatal brain-wasting disease that's like a human version of "mad cow."
People with this rare genetic condition can't repair damage to their DNA
LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged DNA.
What is alkaptonuria? The rare disease that turns your pee black
Alkaptonuria is an unusual disorder caused by a defect in protein metabolism.
What is Capnocytophaga? How an innocent dog lick can trigger a fatal infection
Capnocytophaga infections in humans are rare, especially in historically healthy individuals, but when it occurs, the disease can be deadly.
