Tay-Sachs Disease

Tay-Sachs disease is a genetic disease that causes progressive deterioration of nerve cells, mental and physical abilities. It is an autosomal recessive genetic disease which means that an affected child would need to have inherited a mutated gene from both parents. The mutation is in the α-subunit locus on chromosome 15 which results in a deficiency of the enzyme hexosaminidase A. This enzyme is required to catabolize GM2 gangliosides. If a substance is not properly broken down, Continue reading

Blood, haemostasis and thrombosis

Blood is one of those under-appreciated things. It continuously circulates the body delivering oxygen and nutrients to where they need to be, and removing things that shouldn’t be there. The heart pumps it around and has been doing so without fail, since you were about minus 34 weeks old (ie. a very young fetus). Haemostasis is the balanced interaction of blood cells, blood vessels and plasma proteins. This post will look at how the body reacts in response to injury to the endothelium of a blood vessel and what are some potential consequences of this.

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