Articles tagged with Genetic Disorders
Researchers have identified the gene responsible for Chediak-Higashi syndrome, a fatal childhood disease that weakens the immune system and increases cancer risk. The discovery could lead to new treatments and diagnostic tests for patients with cancer or autoimmune disorders like lupus.
Researchers have identified a second gene linked to hereditary hemorrhagic telangiectasia (HHT), a bleeding disorder that affects 1 in 40,000 people. The discovery provides new understanding of how the body's vascular system operates and may offer hope for families affected by the disease.
Scientists found a connection between triplet repeat genes and brain disorders like Huntington's disease, where proteins errantly stick to an enzyme crucial for energy production in brain cells. The discovery offers a potential treatment option by blocking protein interactions.