Scientists have made a big medical breakthrough by fixing a damaged gene in rare disease. This is the first time doctors have successfully changed a faulty gene back to normal inside a person’s body.
The disease is called Alpha-1 Antitrypsin Deficiency (AATD). It affects about 1,00,000 people in the United States. AATD is harmful for both liver and lungs. People with this disease often develop breathing problems, such as emphysema or COPD (Chronic Obstructive Pulmonary Disease).
The new treatment was invented by a company called Beam Therapeutics. They tested the treatment on nine people. The scientists used a special method called base editing to fix a tiny mistake in the patients’ DNA.
DNA can be thought of as a massive instruction manual composed of just four letters: A, T, C and G. In people with AATD, one of these letters is wrong. This tiny error causes the body to make a protein that doesn’t work properly. Instead of protecting the lungs, the faulty protein builds up in the liver and causes damage there, too.
To fix the problem, scientists used a high-tech tool. This tool can travel through the body, find the exact place in the DNA where the mistake is and carefully change it to the correct letter. It’s like finding a typo in a book with billions of letters and fixing just one.
The treatment was simple for the patients. They sat in a chair and received an infusion, which is a special kind of injection into their bloodstream. The liquid they received contained tiny particles, similar to those used in COVID-19 vaccines. These particles carried the gene-editing tool to the liver.
Once in the liver, the tool went to work. It detected the defective gene and repaired it. The treatment worked best in the patients who received the highest dose. These patients started making the healthy protein that helps protect the lungs. They also had less damage in their liver. Most importantly, none of the patients had serious side effects.
Doctors and scientists are very hopeful. Dr. Kiran Musunuru, a gene therapy expert, said this could be the beginning of a new kind of medicine , one that fixes the root of diseases instead of just treating the symptoms.
Dr. Noel McElvaney, one of the researchers, believes this treatment could represent a significant breakthrough. He sees many patients in their 30s and 40s suffering from serious lung and liver problems. He hopes this new therapy can stop the disease before it causes too much damage.
The company will test the treatment on more people and give everyone a higher dose. They also want to get approval so more patients can benefit from it.
Dr. Andrew Wilson, from the Alpha-1 Foundation, said, “We’ve been hoping for this kind of treatment for a long time. Now it’s finally here.”
This new treatment gives real hope to people with AATD. It shows that fixing genes can be possible and it may lead to cures for many more diseases in the future.
