Tags » Gene Mutations

Splitting, Lumping and Clustering

If we want to find treatments for Phelan McDermid syndrome (PMS), first we need to figure out what is PMS. ┬áThat was spelled out in my blog: … 701 more words

English

getting the call

I expected to test positive, but the news still felt emotional. Knowing for sure that my mom had the gene mutation, wishing we could have found out sooner, not knowing if it would have made any difference. 167 more words

Comics

Autism. Senses. Seeing the world as it is. Being philosophically illiterate.

Autism spectrum disorders are generally thought to be caused by deficits in brain development, but a study in mice now suggests that at least some aspects of the disorder – including how touch is perceived, anxiety, and social abnormalities – are linked to defects in another area of the nervous system, the peripheral nerves found throughout the limbs, digits, and other parts of the body that communicate sensory information to the brain. 417 more words

Researchers ID Cancer Gene-Drug Combinations Ripe for Precision Medicine

Yeast, human cells and bioinformatics help develop one-two punch approach to personalized cancer therapy —

In an effort to expand the number of cancer gene mutations that can be specifically targeted with personalized therapies, researchers at University of California San Diego School of Medicine and Moores Cancer Center looked for combinations of mutated genes and drugs that together kill cancer cells. 116 more words

Research

Miracles, Monsters, And Do-Re-Mi: A Variant Cultural History of The Word "Mutation"


None of us can cast stones for we are all fellow mutants together.

– Herman Muller (1950)

Until relatively recently, mutations were thought to be uncommon events that irregularly popped up around the genome, save for a few hotspots here and there. 2,483 more words

Genetic Counseling