Genetic diseases

• What is Cystic fibrosis?


  Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It leads to the production of thick, sticky mucus that can clog the airways and cause severe respiratory and digestive problems.

  
• Link Cystic fibrosis to genes.


  CF is caused by mutations in the CFTR gene, which is responsible for producing a protein that regulates the movement of salt and water in and out of cells. Mutations in this gene lead to the production of a faulty CFTR protein, resulting in the characteristic symptoms of CF
• What is sickle cell?


  Sickle cell disease (SCD) is a genetic blood disorder characterized by the presence of abnormal hemoglobin, which causes red blood cells to become rigid and sickle-shaped. These misshapen cells can block blood flow, leading to pain, organ damage, and other complications.

  
• Link Sickle cell to genetics


  SCD is caused by mutations in the HBB gene, which provides instructions for making a component of hemoglobin. The mutations result in the production of abnormal hemoglobin (hemoglobin S), leading to the symptoms and complications associated with SCD.
• What is down syndrome?


  Down syndrome (DS), also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is characterized by developmental delays, distinct facial features, and often, varying degrees of intellectual disability.

  
• Link down syndrome to genetics


  Down syndrome is typically caused by the presence of an extra chromosome 21 (trisomy 21), which can occur due to errors during cell division in either the egg or sperm. This extra genetic material leads to the physical and cognitive features seen in individuals with Down syndrome.
• Huntington's Disease


  A progressive neurological disorder that leads to the degeneration of nerve cells in the brain, affecting movement, cognition, and behavior
• Color Blindness


  A genetic condition that affects a person's ability to distinguish between certain colors, usually red and green or blue and yellow. It occurs when certain cells in the retina, called cones, do not function properly or are missing.
• Hemophilia


  A genetic bleeding disorder where blood does not clot properly, leading to prolonged bleeding after injury or surgery, as well as spontaneous bleeding into joints and muscles.