Genetics

Rare diseases: Over 300 million patients affected worldwide

Rare diseases represent a global problem. Until now, the lack of data made it difficult to estimate their prevalence. Created and coordinated by Inserm, the Orphanet database contains the largest amount of epidemiological ...

Medical research

Two therapies cure rare genetic disease in mice

Most babies who are born with arginase deficiency—a rare genetic disease that leads to the accumulation of the amino acid arginine in the blood—don't have symptoms at first. By the time they're toddlers, however, their ...

Medical research

Meet the alpacas that could cure autism, Alzheimer's and cancer

Alpacas aren't the typical animals that drivers spot as they wind their way through rural Tennessee, but there's a happy herd of them outside Waverly, where they eat the finest pellets, walk up and down a scenic hill and ...

Medical research

New treatment could improve care for two bone diseases

Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) and the University of Barcelona (UB) have described the ability of an inhibitor of the PI3Kα (BYL719) to block the ectopic bone formation in mice. This ...

Genetics

Expert discusses RNA's role in diagnosing rare diseases

An individual's genetic makeup, or genome, can reveal important and intimate details of his or her biology. Now, scientists are showing that RNA, the lesser-known molecular cousin of DNA, is powerful in its own right and ...

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