By: Dean
Today’s blog was written by Dean, an 8th grade student at the Collegiate School who has always been interested in medicine, diseases, and how we combat them.
Have you ever wondered why your eyes are brown, or why your hair is black? It’s because of something that you cannot control: your genetics. While genetics shape aspects about you, they can also have serious, sometimes hazardous, effects on your body, like Cystic Fibrosis or Sickle Cell Disease.
Cystic Fibrosis is a genetic disease in which the body does not correctly use the CFTR protein, or that protein is malfunctioning. The CFTR protein regulates the production of sweat and mucus inside your body. The result of defective CFTR proteins is increased production of mucus in the airways and digestive track. The airways of people without Cystic Fibrosis are relatively clear. There is a thin layer of mucus that catches bacteria, germs, and particles that could harm the body. The cilia sweeps these bacteria up to the throat and nasal passage so they can be expelled by coughing or sneezing. In a patient with Cystic Fibrosis, the mucus is dehydrated, making it stickier and larger, and it catches more bacteria that cannot be expelled by coughing or sneezing. This means the bacteria stays in the mucus and poses a risk of infection. There are some treatments to lessen the effects of Cystic Fibrosis, but often they only fix the symptoms and not the underlying issue.
Sickle Cell Disease is a genetic disease in which the red blood cells stiffen causing them to form a sickle-like shape. Usually, red blood cells are round, and they can fit through tight places to get to where they need to go. The issue with the red blood cells of patients with Sickle Cell Disease is because of their shape, they fail to complete the most basic function of red blood cells: delivering oxygen. The average lifespan of a healthy red blood cell is slightly above 100 days before it is replaced. The average lifespan of red blood cells from patients with Sickle Cell is around 15 days. Weaker red blood cells can lead to anemia. When the body isn’t getting enough oxygen from red blood cells leaving the patient feels constantly fatigued. This can also lead to swelling in the hands and feet, and can create blood clots leading to strokes, heart attacks, pulmonary embolisms, and massive amounts of pain. Sickle Cell remains a disease that affects millions of people.
While Sickle Cell Disease and Cystic Fibrosis are serious diseases, there has been a new promising treatment in recent years: gene therapy.
Occasionally, when a baby is born, a piece of a certain gene is missing, or healthy genes can mutate over the course of one's life. Gene therapy can be used to fix this. It can replace a gene that is defective, add genes to the body to prevent diseases, de-activate genes that are causing issues, or use special gene editing tools to repair specific genes. Gene therapy can be used to fight many diseases that have crippling effects on people’s lives. For example, gene therapy could replace or fix the CFTR gene which causes Cystic Fibrosis. Or consider CRISPR, a tool that can be used to edit someone's DNA. CRISPR was discovered in bacteria that would use it to protect themselves from bacteriophages. When they were infected, they took a piece of the bacteria’s DNA and stored it. When they came back, the bacteria could use CRISPR to target anything with that specific gene and destroy it.
As we look ahead, there could be a world where people no longer have to suffer from diseases like Cystic fibrosis or Sickle Cell, a world in which people can be free from the genetic diseases that are constantly holding them back.