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Hypophosphatasia
[an inherited metabolic (chemical) bone disease that results
from low levels of an enzyme called alkaline phosphatase (ALP).]
Sir Archibald Edward Garrod
One of the first people to research inherited metabolic disorders was Sir Archibald Edward Garrod (1857-1936). His first book "Inborn Errors of Metabolism" (Oxford, 1908; reprint 1963):-- the concept that a metabolic process takes place in which every gene causes an enzyme to stimulate a chemical reaction, later became known as the "one gene - one enzyme theory." At the end of his career, Garrod wrote "Inborn Factors in Disease" (1931), in which he set out his belief that chemical individuality could result in individuals having a predisposition to certain diseases.
John Campbell Rathbun
Hypophosphatasia, or Rathbun's Syndrome (path.)
"The term hypophosphatasia was coined in 1948 by the Canadian pediatrician John Campbell Rathbun (1915-1972) at the Toronto Hospital for Sick Children when he reported on a new developmental anomaly of an infant boy whose Alkaline Phosphatase (ALP) activity in serum, bone, and other tissues was paradoxically subnormal."
"Hypophosphatasia occurs throughout the world and apparently in all races. However, the disorder is especially prevalent in Manitoba, Canada, where 1 in 2500 newborns manifests severe disease and about 1 in 25 individuals is a carrier. The incidence of severe forms in Toronto, Canada, has been estimated to be 1 per 100,000 live births."
Michael P. Whyte, MD
The three figures in logo
represent people working together and supporting each other --
standing on the shoulders of those who have gone before
and encouraging those coming after to do the same.
The porous heart represents a compassion
for those who have poor bone density,
striking at the very "heart" or nature of bone disease.
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