Introduction Familial Hypercholesterolemia (FH) is an inherited disorder characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C), commonly known as “bad cholesterol,” in the blood. It significantly increases the risk of early-onset cardiovascular diseases such as heart attack and stroke. FH is one of the most common genetic lipid disorders and can be passed […]
Introduction Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the skin’s ability to repair damage caused by ultraviolet (UV) rays from the sun. People with XP have a defect in the DNA repair system, making them extremely sensitive to sunlight. Even small exposure can cause sunburns, skin damage, and increase the risk of
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Introduction Mutations are changes in the DNA sequence of an organism. These changes can happen naturally or due to external factors. Mutations are important in evolution, genetic diversity, and can also cause diseases. Understanding different types of mutations helps us learn how genes work and how errors in DNA affect health. What is a Mutation?
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Describe Briefly the Signs and Symptoms of SCID Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in both humoral (B-cell) and cellular (T-cell) immunity. It is often termed as “bubble boy disease” due to the extreme measures required to protect affected individuals from infections. Causes Mutations in genes
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