Tagged: mutation

PARP Inhibitors for Cancer Therapy

Summary Rucaparib is an inhibitor of nuclear poly (ADP-ribose) polymerases (inhibition of PARP-1 > PARP-2 > PARP-3), following a similar drug, Olaparib. It disrupts DNA repair and replication pathways (and possibly transcription), leading to...

CHILD ARCHIVE CHILD ARCHIVE

Mosaic mutations in autism

Spontaneously arising de novo mutations are likely important contributors to the development of autism spectrum disorder (ASD) in affected individuals. Genetic mutation is an ongoing process. Although people inherit deleterious mutations from their parents,...

CHILD ARCHIVE CHILD ARCHIVE
CHILD ARCHIVE

Cancer-Driving Mutations Common in Normal Skin Cells

Normal skin, which is often exposed to ultraviolet (UV) light throughout a person’s life, contains many potential disease-causing mutations clustered within a narrow range of at least six cancer-associated genes, according to an analysis...

CHILD ARCHIVE

Jewish Heritage Written in DNA

Whole-genome sequences from 128 healthy Jewish people could help the medical community identify disease-associated variants in those of Ashkenazi ancestry, according to a study published today (September 9) in Nature Communications. The library of sequences...

CHILD ARCHIVE

Mosaic Mutations

When a couple has a child with a genetic disorder, they often ask how likely they are to pass the disorder on to another child. To determine the risk of this happening, clinicians must...

CHILD ARCHIVE

Mutations Pervade Mitochondrial DNA

Mutations in one or more copies of mitochondrial DNA, known as heteroplasmies, are likely to be much more common in healthy people than previously anticipated. Approximately 90 percent of healthy participants in the 1,000...

CHILD ARCHIVE CHILD ARCHIVE
CHILD ARCHIVE CHILD ARCHIVE