boscastlebreakdown

Hoping no one will accuse me of stepping on Pinker's toes, but the 'half the genes are expressed in the brain' thing needs to be put into context. A lot, a lot, of genes are expressed everywhere. It is not the number of genes, but the type that is important. Neurological features are more regulated by epigenetic modifications than simple gene expression levels can indicate.

Sorry for the lack of citations, which I highly commend in your post, if you want more on this I can look it up for you later, although I am sure you have just as much access to these sorts of studies as I.

My sister has cerebral palsy, and someone asked me whether, if there was a cure, I would take it. Uh, it's not a cure, it would just make her into someone different. It would be cool if someone could help her with the muscle tension though. That's a cure.

Hey there! I used to work with disabled children when I was younger, and I have to admit I've never met anyone with 22Q. If you were to describe what 22Q means to you as a mum and as a whole family, what would you say?

I am now a geneticist, and I was wondering if you wanted to ask me anything, or if you have any neat facts about 22Q that will help rally some interest in my genetic counsellor friends.

Keep on being awesome!

I have a sister with cerebral palsy, and I think this poem is both a good description of being a carer and also going to holland!

I will tell my counsellor friends, but they all think I'm a hoity-toity researcher who doesn't want to do real work anyway, so they probably won't listen :P

They're doing good work too, though. They help a lot of people who end up somewhere in life when they thought they would be somewhere... else. It's a tough job that they do, and I don't envy them. Me? I sit in a lab and look at things for a living. I do it because I like it, not because I should or I have to. Genetics is fun, that's why I do it.