Archibald Garrod Biography (1857-1936)

physician, chemist

Archibald Garrod was a physician whose innovative work in clinical medicine and chemistry led him to discover a new class of human disease based on hereditary factors. A pioneer in biochemistry, Garrod stressed the chemical uniqueness of each person. For his work on inborn errors of metabolism, Garrod was elected to the Royal Society and received a knighthood.

Archibald Edward Garrod was born in London on November 25, 1857, the fourth and youngest son of Sir Alfred Baring Garrod and Elisabeth Ann Colchester. Garrod's father, a distinguished professor of medicine at University College inLondon, was the first physician to note the presence of uric acid in patientssuffering from gout. In later years, Garrod would cite his father's discovery as the first quantitative biochemical investigation performed on living humans.

As a child, Garrod demonstrated an early talent for illustration and a lasting interest in color. He studied physical geography at Marlborough and astronomy at Oxford, where he graduated with first-class honors in natural science.Deciding to follow in his father's footsteps, Garrod began the study of medicine at St. Bartholomew's Hospital in London. He received a number of scholarships and spent a year attending medical clinics in Vienna, resulting in the publication of a book on the laryngoscope, a device used to examine the interior of the throat. A tall, handsome man, Garrod became a skilled clinician whose reassuring manner enabled him to gather detailed medical histories from his patients. In 1884, Garrod joined the staff of St. Bartholomew's Hospital, but promotion was slow and for nearly three decades he had ample time to pursue his interest in chemistry and disease. He wrote a number of papers on jointdisorders, his father's specialty, pointing out the difference between rheumatism and rheumatoid arthritis as diseases.

Garrod's interest in joint disease led him to study the chemistry of pigmentsin urine. While working as a visiting physician at the Great Osmond Street Hospital for Sick Children, he examined a three-month old boy, Thomas P., whose urine was stained a deep reddish-brown. Garrod's diagnosis was alkaptonuria, which is caused by an abnormal build-up of homogentisic acid, or alkapton.In a normal person, the acid is broken down through a series of chemical reactions into carbon dioxide and water. But in rare cases, the metabolic processis interrupted and the acid is excreted in the urine, where it turns black on contact with the air. According to the germ theory of disease, whichhad transformed the study of medicine in Garrod's time, alkaptonuria was thought to be a bacterial infection of the intestine. The disorder was almost always diagnosed in infancy, lasted throughout life and was thought to be contagious. Garrod's training in physical science, however, led him to investigatethe disease as a series of chemical reactions. He reviewed 31 cases of alkaptonuria from his own practice and from the medical literature, and presentedhis findings to the Royal Medical and Chirurgical (Surgical) Society of London in 1899. Alkaptonuria, he noted, although rare, tended to appear among children of healthy parents. It was not contagious and seemed to be a harmless error in metabolism.

When a third child with alkaptonuria was born to the parents of Thomas P., Garrod suspected that something more than mere chance was involved. When he learned that Thomas P.'s parents were blood relations--their mothers were sisters--he inquired into the backgrounds of other families with one or more children with alkaptonuria. In every instance, their parents were also first cousins. It was while walking home from the hospital one afternoon that Garrod conceived of the possibility that alkaptonuria might be a disease caused by heredity (genetics). Gregor Mendel's work on the principles of heredity, newly discovered in England, offered a simple explanation. The mating of firstcousins apparently created conditions under which a rare, recessive Mendelianfactor (or gene) appeared in the offspring. Garrod's classic paper on alkaptonuria was published in Lancet in 1902.

Garrod went on to study other metabolic disorders, including the pigment disorders porphyria, the cause of George III's madness, and albinism. Likealkaptonurics, albinos tended to be children of parents who were first cousins. In a series of lectures delivered before the Royal College of Physiciansin 1908, Garrod described such disorders as "inborn errors of metabolism." Ineach instance, he claimed, a genetic factor caused a deficiency in a certainenzyme which led to a premature block in the chemistry of normal metabolism.In his book, Inborn Errors of Metabolism (1909), Garrod described an important new class of diseases which were genetic, not bacteriological inorigin.

In recognition of his contributions to science, Garrod was made a fellow of the Royal Society in 1910, and was knighted in 1918. He spent World War I in the Army Medical Service on the island of Malta as consulting physician to theBritish forces in the Mediterranean. Two of his sons were killed in combat,a third died of the Spanish influenza following the armistice.

After the War, Garrod returned briefly to St. Bartholomew's, but was soon summoned to Oxford to become Regius Professor of Medicine. In his lectures, Garrod urged students to think of disease in terms of biochemistry. Clinicians, he argued, were uniquely placed to observe anomalies of nature which they could then investigate in the laboratory. In his later writings, Garrod hypothesized that there might be a molecular (genetic) basis for all variations in life functions, including physical appearance, susceptibility to disease, even behavior.

Garrod retired in 1927. He and his wife, Laura Elizabeth, whom he married in1886, moved to Cambridge to be near their daughter, Dorothy, a noted archaeologist and teacher at Newnham College. Archibald Edward Garrod died at home onMarch 28, 1936. He was 78.

The significance of Garrod's contribution to the science of genetics was notappreciated in his lifetime; he was an elderly physician when most young geneticists were botanists and zoologists. It was not until the 1940s that Garrod's pathbreaking work in human genetics was rediscovered and applied to gene theory.

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