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GUILT BY ASSOCIATION vs. PREMATURE AGING
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Werner syndrome is a progeroid syndrome and it is causally linked to mutations in the WRN gene. The WRN and BLM gene are similar in their DNA helicase function, and the encoded proteins are similar in amino acid sequence, particularly in the part of the protein that binds and unwinds DNA (which is what makes a helicase a helicase). Moreover, there are other syndromes in which DNA repair is defective that are progeroid. But there are also syndromes in which DNA repair is defective that are not progeroid. The fact the WRN mutations are associated with aging is not a strong argument that Bloom’s syndrome is progeroid.

As noted above, there are no features of aging—what aging looks like to the reasonable medical observer—that occur prematurely in Bloom’s syndrome. But the question continues to come up because the population of persons with Bloom’s syndrome is still relatively young and the average lifespan is still less than 30 years. This average lifespan has been increasing over time because cancer treatments have improved and more persons with Bloom’s syndrome are surviving past their first cancer diagnosis. The oldest person in the Bloom’s Syndrome Registry is 50, and there are not so many who have reached 40. Consequently, we still have a general paucity of information about Bloom’s syndrome over 40.

BSA Blog

2016 Bianco Family's Fundraiser

Second annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2016 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2016 Bianco Family's Fundraiser.

2017 Bianco Family's Fundraiser

Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2017 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2017 Bianco Family's Fundraiser.

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