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 ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

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 ...

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

A vast mosaic of cells, some that are identical and some that are slightly different, make up the human body. Knowable Magazine You began when egg and sperm met, and the DNA from your biological ...

It also allowed the team to diagnose the younger of the pair with acromesomelic dysplasia, Maroteaux type (AMDM), a rare genetic disorder affecting the growth of bones. This is the earliest evidence ...