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 ...

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 ...

A refined base-pair editor limits unintended neighboring DNA edits while maintaining strong correction of disease-causing ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders ...

For decades, biologists have known that the instructions for life are written in DNA, yet the vast majority of those letters seemed to sit in the dark, doing little that was obvious. Now a new ...

Figure 3. Docking of ADNP_Glu931Glyfs12 to the PTB protein. (A) The results of docking ADNP_Glu931Glyfs12 (light orange) to the PTB protein (PDB code 3DXC, navy blue) in the 934-941 amino acid region ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

Researchers from Nijmegen and Newcastle have discovered a new genetic mutation leading to severe combined immune deficiency disorder (SCID). It's the first time a mutation in the proteasome, a ...

Researchers in the RIKEN Center for Brain Science (CBS) examined the genetics of autism spectrum disorder (ASD) by analyzing mutations in the genomes of individuals and their families. They discovered ...