Monday, January 11, 2010

The Cure

Not the band...

I was sent an article this morning that made me think, again.

"I think that fragile X-targeted treatments are at the cutting edge of reversing cognitive deficits in individuals with neurodevelopmental disorders," says Randi Hagerman, medical director of the M.I.N.D. Institute at the University of California, Davis. Hagerman consults with a number of companies, including Seaside, that are developing treatments for fragile X syndrome. "This could lead to reversing intellectual disabilities and behavioral problems with this disorder," she says. "That is extremely exciting."

The fragile X mutation blocks production of a protein called FMRP (fragile X mental retardation protein), whose normal task is to inhibit molecular activity at the connections between nerve cells. Loss of the protein appears to throws the system out of whack. "It's like driving a car with your foot on the accelerator and no brake," says Randall Carpenter, a physician and cofounder of Seaside. "There is too much activation of that pathway."

I read something on the BBC a year or so ago that scientists had reversed the syndrome in lab mice. I'm reading this and crying. This is a very real possibility. It could be 15-20 years before the drug is marketed and available...

Which means I have a lot of thinking and decision making to do.

A lot.

On another note;

It's official, im a published photographer. That makes me feel pretty amazing and pushes me even more to publish a book on Aidan.


  1. This is so monumentle I decided to post a link to this on my FB. I am not surprised you have been published. You are an excellent photographer. What took them so long? :)

    I am working on my book and you will be included in it. TTYS Sarah.

  2. Sarah, congratulations !! On this and other (happy) things on which I've not commented =)


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