Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to ...

Researchers have defined a new genetic disease caused by a mutation in the IVNS1ABP gene. The condition marks a rare combination of premature physical aging and progressive neurological decline caused ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function.

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a ...

The mutation—a single nucleotide polymorphism (SNP), or a change to a single letter of the protein's genetic code—is essentially a "gain-of-function" variant that is associated with higher expression ...

So it would seem helpful that new research on autism has just discovered a possible genetic link -- an alteration near a gene called semaphorin 5A, which is thought to guide the growth of brain-cell ...

Researchers have pinpointed a gene mutation associated with survival at high altitudes that could restore myelin to damaged ...