Gene therapy is promising, but for now is only used to treat a few diseases that have no other effective treatments. Many types of gene therapy are still being studied to see how safe they are, and if they can work to treat or prevent diseases. This process is slow because experts have to make sure that the benefits are worth the risks. Reviewed by: Larissa Hirsch, MD. Larger text size Large text size Regular text size. An example of an inborn error of metabolism is phenylketonuria PKU.
For other genetic conditions, treatment and management strategies are designed to improve particular signs and symptoms associated with the disorder. These approaches vary by disorder and are specific to an individual's health needs. For example, a genetic disorder associated with a heart defect might be treated with surgery to repair the defect or with a heart transplant.
Conditions that are characterized by defective blood cell formation, such as sickle cell disease , can sometimes be treated with a bone marrow transplant. Bone marrow transplantation can allow the formation of normal blood cells and, if done early in life, may help prevent episodes of pain and other future complications.
Some genetic changes are associated with an increased risk of future health problems, such as certain forms of cancer. Management may include more frequent cancer screening or preventive prophylactic surgery to remove the tissues at highest risk of becoming cancerous. Genetic disorders may cause such severe health problems that they are incompatible with life.
In the most severe cases, these conditions may cause a miscarriage of an affected embryo or fetus. In other cases, affected infants may be stillborn or die shortly after birth. The new technique, known as prime editing, has the potential to mend about 89 per cent of the 75, harmful genetic mutations that lie behind hereditary diseases such as cystic fibrosis and sickle cell disease , a blood disorder, researchers say.
It has been successfully tested for the first time in a laboratory on sickle cell disease as well as the Tay-Sachs disease, a very rare genetic disorder that causes progressive damage to the nervous system and is usually fatal. The new technique has raised hopes that these diseases — along with many others — could in some cases become curable, and in others easier to treat.
Professor Liu cautions, however, that far more research is needed to test the safety and effectiveness of the technique in living humans, sperm and eggs — with any use on the health service still years away. Gene editing is currently banned in the UK and across the world while huge amounts of research would be needed to apply the technique to each individual disease.
The new technique builds on the Crispr method of gene editing, which has only emerged in recent years and is still in its very early stages. Crispr represents a major breakthrough in the field but has limitations which mean the majority of the genetic variants associated with disease cannot be corrected effectively. GM baby scientist could face the death penalty, colleagues say. But the act of physically cutting through the DNA strands can often be difficult to execute with the necessary precision.
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