Jay and Pamela have a rare condition called Osteogenesis Imperfecta type III. This condition and their experience living with ...

In one tiny town, more than a dozen people were diagnosed with the rare neurodegenerative disease ALS. Why? I n March 2009, ...

In an exclusive interview with PEOPLE, Jay and Pamela — both born with osteogenesis imperfecta, or brittle bone disease — ...

Out of over 6,000 known rare diseases, around 80% are of genetic origin, and 70% begin in childhood. Experts estimate that over 300,000 Bulgarians are affected by a rare disease, even though only ...

Researchers claim their study proves it is possible to delay Alzheimer's and 'give people more years of healthy life'.

Fostering dialogue between neurologists, researchers, patient representatives, and policymakers is an important step towards ...

A small but growing number of house cats have gotten sick from H5N1, the bird flu strain driving the current U.S. outbreak, after eating raw food or drinking unpasteurized milk. Though there are no ...

Scientists at deCODE genetics/Amgen have identified associations between bipolar disorder and rare loss-of-function variants ...

Affecting 1 in 500 people, hypertrophic cardiomyopathy is a condition in which the walls of the left ventricle, the heart's ...

Families in Connecticut and beyond are looking for answers when it comes to treating Angelman Syndrome, but fear funding ...

While this may seem like a very small number, there are in fact more than 6000 rare diseases that we know of today, 80% of which are of genetic origin, often both chronic and life-threatening.

Rare disease treatment poses distinct ... offering the possibility to treat diseases at a cellular or genetic level. However, as promising as these therapies are, they come with their own unique ...