Sunday, February 24, 2013

Gaucher Disease


Gaucher Disease by Brooke Gentry

Gaucher disease is a rare, inherited metabolic disorder. It is also the most common of the lysosomal storage disorders. It is caused by the deficiency of the enzyme glucocerebrosidase.This results in the accumulation of dangerous quantities of lipids throughout the body.These lipids, specifically the glycolipid glucocerebroside, build up within the bone marrow, spleen, and liver.
The symptoms (or etiology) associated with Gaucher disease vary greatly. Some people will develop few or no symptoms (asymptomatic), while others may have serious complications. Common side effects of Gaucher disease include an abnormally enlarged liver and spleen, low levels of circulating red blood cells, low levels of platelets, and skeletal abnormalities.Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.
Glucocerebrosidase is an enzyme found within lysosomes.These enzymes are responsible for breaking down nutrients including fats like glycolipids.Those with a deficiency in glucocerebrosidase will accumulate to many glycolipids ad contract Gaucher disease.
To treat Gaucher disease, an intravenous glucocerebrosidase enzyme replacement treatment is currently available. However, this treatment must be used for one's entire life, as there is no getting rid of Gaucher disease. Additionally, this treatment costs 200,000 dollars a year.
After doing much research about a possible cure for Gaucher disease, I still did not have any definite answers. However, because the ‘Gaucher lipids’ build up in the bone marrow, I would propose that those with the disease seek bone marrow transplants. This is a very risky procedure, and should be approached with caution. If an individual with Gaucher disease already has a low chance of survival, they may as well try everything they can, including bone marrow transplants. 










source: http://www.webmd.com/a-to-z-guides/gaucher-disease-symptoms-causes-treatments

Sunday, February 17, 2013

PERCY LAVON JULIAN


Figure 1     Percy Lavon Julian


Percy Levon Julian contributed medical discoveries with his study on synthesizing  Physostigmine which is a chemical compound.
His study became successful in 1935.
His discovery is used to help treat patients with Glaucoma.
The picture above shows Percy Lavon Julian's Steps into synthesizing Physotigmine

Percy Levon Julian lived in Vienna to work with Ernst Spth who was an Austrian chemist to synthesize a variety of naturally
accruing  chemicals. While in Vienna he got his PhD at University of Vienna.
After getting his PhD he returned to De Pauw University in Greencastle Indiana
to become a professor but was denied cause of his race.

During World War Two Percy used soya protein to produce aero -foam which was used to suffocate gasoline and oil fires.
He was also a director of research for the Glidden Company.
Percy Lavon Julian is important to science for medical and safety contribution.
I choose Percy Lavon Julian because I wanted to learn more about his contributions.
and at the time that he lived in his contributions weren't really expected to come from an African American.