Researchers Study Mystery of the Toddler Who Won't Grow

kkleiner writes "Twenty-year-old Brooke Greenberg hasn't grown since age five. For the last 15 years, mystified doctors have been unable to explain the cause for Brooke's disorder that has kept her aging in check. At age twenty, she maintains the physical and mental appearance of a toddler. The researchers are now are painstakingly analyzing Brooke’s entire genome in search of unique mutations. Needless to say, it is a formidable undertaking. 'Cracking the code on Brooke’s condition,' [Dr. Eric Shadt] wrote, 'is the proverbial searching for a needle in a haystack, since likely there is one or a small number of letters changed in Brooke’s genome that has caused her condition.' To find the mutation Shadt and his team are using the latest genome sequencing and analysis tools. The strategy is to compare Brooke’s genome to the genomes of her parents and three normal sisters, as well as to other available sequences from the general population, and identify gene mutations that only Brooke has."

Comments

Re:think of the possible implications!

[nephilimsd]

I wonder what the long term effects of this condition might be. Is it possible to die of old age when you don't age?

brain damage?

[pezpunk]

obviously the scientists studying her have far better qualifications and information than i do, but i can't help but think damage to the brain due to the stroke, coma, and brain tumor she suffered at age 4 (right before she stopped developing) could be a more likely cause than her particular genetic makeup.

Epigenetics

[jbeaupre]

Unfortunately, just analyzing genes might not be enough. Gene expression and epigenetics are the other half of the puzzle, and a bit more difficult to discover. Even if you know the code, it's damn difficult to determine where in the body (if anywhere) the code is or isn't active without taking samples all over the place and testing each.

For the computer literate, think of it this way. The researches are disassembling the code of several people to see if there is a difference. But that doesn't tell them what the run time parameters were when a particular bit of code was run (or what inputs it may have had while running). And sampling a memory dump from one CPU in a massively parallel system doesn't give you the whole story either.

Needle meets haystack.

Re:think of the possible implications!

[MightyMartian]

I'd be interested to see a telomere study. Physiologically she's four years old, but is she four at the cellular and genetic levels?

She is growing

[Jmc23]

Just not all at the same time. Her left eye is not the eye of a five year old.

Re:Bioshock?

[93 Escort Wagon]

Or Cowboy Bebop's "Sympathy for the Devil".

Re:think of the possible implications!

[Iamthecheese]

Strongly disagree. There are many people emotionally invested in accepting death but a cure to aging can't come soon enough.