Tags » Gene Mutations

Dravet Syndrome

Dravet syndrome is a rare genetic epileptic encephalopathy, which is a dysfunction in the brain. It usually starts in the first year of life in a healthy baby. 590 more words


What is MECP2 Duplication Syndrome?

I made a video discussing what MECP2 duplication syndrome is. Below are links to the video as well as a transcript of the video.

What is… 872 more words


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


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


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