A Case for the Ages

Eric Schadt appeared on Katie yesterday to discuss the case of a woman who appears to not have aged in the past 15 years.

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I never watch Katie or any of

I never watch Katie or any of that sort of show, but I happened to be at the hairdresser yesterday when it was on. The women in the salon were entranced by this story. And they pretty much want me to do a journal club on the outcome when the paper comes out.

We can mock daytime TV and the crankery that can appear on it (one certain Dr. comes to mind), but this did reach the general public, who are now interested in genome sequence data in a way I rarely see. I was really surprised. It would be great to do a follow up show with the methods and data as an outreach strategy.

This is a lead not to be

This is a lead not to be ignored in getting information on at least some aspect of the regulation of aging. It was not emphasized in the show, for obvious reasons, that this case also represents arrested postnatal development. So it may be difficulat to dissect out what is relevant to aging, per se, and what is required for proceeding with normal childhood postnatal development. Well worth investigating this case for both these aspects.

A tragic case. But I would

A tragic case. But I would say, that development and ageing are not coupled. Look at her sister. She is (of cause) also very young and no one would expect to see any ageing related issues with her.
I expect, that (even if it is more sad than the actual situation), Brooke will develop the same ageing related issues as anybody else. At least if she reaches the age of 50+.
Horrible case!

Brooke Greenberg's cessation

Brooke Greenberg's cessation of normal development is a fascinating case. Although few details are disclosed in the Katie interview, it appears that Brooke has the mental age of a one year old and the physical appearance of a 5 year old. In her first five years, she suffered from several ailments from which she fully recovered, including stomach ulcers, seizures, strokes and near the time that she apparently stopped growing, a brain mass that rapidly disappeared after she slept for 14 days straight. While she has not changed much in outward appearance in the last 15 years, her telomeres are shortening at a normal rate and her bones have continued to age at slower rate. Thus it would appear that Brooke will probably not have a longer life span than normal.

Her doctors have failed to identify any known genetic syndromes or chromosomal abnormalities. Gene sequencing of Brooke's genes associated with the premature aging diseases did not reveal any deleterious mutations. Dr. Eric Schadt's team is performing genome-wide-sequence analyses of Brooke's genome to try to identify the mutation(s) that can result in this rare phenotype. If I was pursuing this problem, I would focus my attention on the mutations that arise in her transcription factors that are not found in her other family members, especially transcription factors that are highly restricted in their expression in early childhood development. This could significantly narrow done the search as some 60 million SNP's are suspected to exist in the human genome.