Publication date: Apr 13, 2019
Doctors have used a new type of medicine called “gene silencing” to reverse a disease that leaves people in crippling pain.
At one point her porphyria was causing severe attacks every couple of weeks and needed hospital treatment.
These cause the attacks of physical pain in Sue’s form of the disease.
Image copyright Getty Images Image caption Your DNA contains the instructions for building the human body The treatment uses an approach called gene silencing.
A gene is part of our DNA that contains the blueprint for making proteins, such as hormones, enzymes or raw building materials.
So our bodies use a short strand of genetic code, called messenger RNA, to bridge the gap and carry the instructions.
In acute intermittent porphyria it lowers the levels of an enzyme involved in haem production and prevents the build-up of toxic proteins.
Gene silencing has been used to treat a genetic disease that causes nerve damage and the US Food and Drug Administration said such medicines “have the potential to transform medicine”.
A similar approach is also being investigated in Huntington’s disease, which is caused by a toxic protein that kills brain cells.
Barry Greene, the president of Alnylam, which developed the porphyria drug, told the BBC the latest findings were “heralding a brand new class of medicine”.
Dr Alena Pance, from the Wellcome Sanger Institute, told the BBC News website: “I get excited about this, because targeting the messenger RNA allows the fine-tuning of the proteins that are involved in certain diseases.
Gene therapy permanently alters the hard copy of the genetic instructions in DNA.
Gene silencing leaves the original DNA alone, but targets the instructions that it sends out into the cell.
Gene therapy has greater potential in diseases like Duchenne muscular dystrophy where a vital protein for keeping muscles intact is missing.
Gene silencing has more potential where tweaking levels of a protein will affect the course of a disease.
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- Dystrogen Therapeutics Announces That Gene Therapy Successfully Cuts Off Production of Neuron-Destroying Protein in Huntington’s Disease