Latest
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Researchers discover mutation that causes Sturge-Webers and port-wine stain birthmarks
Same gene mutation causes skin condition as well was rare neurological and skin disorder; Gene may also provide insight into melanoma
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Challenges abound as researchers search for rare disease treatments
Incentives have encouraged rare disease research but lack of funding, high cost of medication provide challenges
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Stop FOP: Student raises awareness for incurable disease that turns his muscle to bone
20-year-old college student raises awareness for rare disease with only 800 confirmed cases worldwide
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Treating Duchenne, the most common of the rare diseases
Patients with Duchenne muscular dystrophy die on average at 25, but new therapy may patch genetic flaws
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Rare Disease Day puts spotlight on 30 million Americans
There are 7,000 rare diseases in United States, affecting about 30 million Americans -- two-thirds of whom are children
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Former model with rare growth disease dies
Acromegaly is a disorder in which there is too much growth hormone in the body
OnJanuary 17, 2:14 PM /Photos
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17-year-old Pa. woman battles "Sleeping Beauty Syndrome"
Nicole Delien diagnosed with Kleine-Levein Syndrome; She once slept 64 days from Thanksgiving through January
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First treatment for accelerated aging disease progeria has promising results
Patients in study had improved cardiovascular health and were able to gain weight, two problems associated with the disease
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7-year-old Colorado girl contracts "black death" bubonic plague
About 7 cases of plague, which is transmitted to humans through infected fleas or bites from infected animals, are reported in the U.S. annually
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3D printer helps 4-year-old girl who can't use her arms play with toys
Girl had rare condition that causes abnormal development of muscles and was unable to use her arms
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Dad's death shines light on rare Loeys-Dietz syndrome
Dad's death from rare heart condition, Loeys-Dietz syndrome, led to a diagnosis of the disease in his twin daughters
OnJune 28, 12:16 PM /Photos
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Man without legs climbs Mt. Kilimanjaro
Climber Spencer West was born with sacral agenesis, a rare condition in which the lower spine, pelvis don't form properly at the time of birth
OnJune 22, 4:04 PM /Photos
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Hard cases: Investigating rare & tough diseases
Dr. William Gahl is one of the last, best hopes for people suffering from rare, debilitating, and undiagnosed medical conditions
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Rare disease or fake illness?
Dr. William Gahl, director of the Undiagnosed Diseases Program at the National Institutes of Health, explains why mysterious ailments are sometimes mistaken for hypochondria.
OnMay 20, 7:00 PM /PlayVideo
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Clara's journey: 9-year-old with deformed face navigates the world
Clara Beatty was born with rare genetic mutation called Treacher Collins syndrome, causing deformed face
OnMay 03, 12:13 PM /Photos
