Rare diseases — Medical conditions you may never have heard of before
Latest about rare diseases

People with this rare genetic condition can't repair damage to their DNA
By Emily Cooke published
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
By Emily Cooke published
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
By Emily Cooke published
Capnocytophaga infections in humans are rare, especially in historically healthy individuals, but when it occurs, the disease can be deadly.

Argyria: The rare disease that turns people blue
By Emily Cooke published
Argyria is caused by a buildup of silver in the body, which discolors the skin.

Tularemia: The 'rabbit fever' that can fatally infect humans
By Emily Cooke published
Tularemia, or "rabbit fever," is an infectious disease that normally affects animals but can spread to humans, sometimes via tick and deer fly bites.

Situs inversus: The condition where your organs are on the 'wrong' side
By Emily Cooke published
Situs inversus is a rare genetic condition that causes the organs in the chest and abdomen to be located on the opposite side from where they're usually found, like a mirror image.

Frosted branch angiitis: A rare eye condition that makes the retina look like a frosted tree
By Emily Cooke published
Frosted branch angiitis is a rare condition that makes the blood vessels that supply the retina look like the frosted branches of a tree.

Fatal familial insomnia: A genetic condition where people never sleep again
By Emily Cooke published
As fatal familial insomnia progresses, patients completely stop sleeping and enter a coma-like state that results in death within months.

Angelman syndrome: A disorder that stops people walking and speaking
By Emily Cooke published
Angelman syndrome is a rare disease that disrupts the normal development and function of cells, particularly in the nervous system, leading to severe developmental delays and learning disabilities.
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