William A Gahl
Citizenship: United States
Explorer gene disorders
William Hal graduated from the Massachusetts Institute of Technology with a bachelor`s degree in 1972, the year. He also received a doctorate in medicine at the University of Wisconsin at Madison in 1976 and defended his thesis in 1981.
Dr. Gal investigates rare inborn errors of metabolism, observing patients in the hospital, as well as carrying out biochemical, molecular-biological and other research on the cellular level in his laboratory. The group`s interests include a number of genetic disorders, including cystinosis, a German-Pudlaka syndrome (HPS), homogentisuria and problems with an excess or deficiency of sialic acids.
Generally, William Gal long been puzzled by the question of violations of the outflow of cystine out of lysosomes. Lozosomalnye disorder caused by mutations in the CTNS gene, occurring in one newborn out of 100-200 thousand. The gene encodes CTNS tsistinozin, lysosomal integral membrane protein and mutations in CTNS lead to disruption of lysosomal cystine transport, and formation of cystine crystals in most cells in the body. Without treatment, the disease causes kidney failure in children, as well as a number of other serious complications.
Over the past two decades, conducted in the laboratory, Dr. Gal learned about the mechanisms of emergence and development of the disease, as well as demonstrated safety cysteamine therapy (& # 946; -merkaptoetilamina), in which the cell cystine depletion occurs. In reality, cysteamine therapy, along with a kidney transplant, has affected many patients who have freed themselves from adverse events. Cystinosis took the chronic form, but his symptoms began to steer.
Another important area of ??research is the German Gala-Pudlaka syndrome (HPS), which is characterized by albinism and bleeding. In some cases, HPS also peculiar pulmonary fibrosis, or colitis. HPS was first described in 1959, but since then have been identified 7 human genes responsible for the manifestation of symptoms, two of which opened the group of Dr. Gala. Since some patients have not been found a genetic mutation, it is believed that the HPS may be a different type, and then it comes to other genes. Although the methods of treatment of the underlying disorder has not yet been developed, Dr. William Group has succeeded in slowing down the development of some symptoms of HPS among a small group of patients.
His laboratory is also being studied homogentisuria in which a mutation in the gene causes the accumulation of HGO homogentisic acid (HGA), bleaching eye and damaging the connective tissue in the large joints and heart valves. Closely watching the 58 patients, the group Gala opened the first modern characteristics of the disease and developed a potential therapy using low-dose nitizinona drugs that reduce the production of HGA. The next step in the 3-year clinical trial will be to determine whether the drug can slow down or stop the development of damage caused by homogentisuria.
Dr. Gal and its reference laboratory works with sialic acids. The lack of sialic acid causes severe muscle disease, often sending patients to a wheelchair, eventually leading to death from respiratory failure. Excess acid is not less harmful to human health. Three children of rare diseases, which is characterized by growth retardation and developmental delay, caused by excess content in the body of sialic acids. One disease so rare that all over the world have been identified only 7 patients with Gala laboratory analysis was made for the presence of mutations in six of them. At the same time, the group developed a William Gala phenotypic description of the various disorders and provided assistance in diagnosing other laboratories.
In the laboratory, the Gala is also interested in a number of other genetic diseases, including autosomal recessive polycystic kidney disease, congenital hepatic fibrosis, Chediak Higashi syndrome, gray platelet syndrome, Hutchinson-Gilford progeria and others.