Precision medicine for genetic diseases

Precision medicine for genetic diseases

In the field of RNA therapeutics, ProQR is at the forefront of delivering targeted therapies for people with inherited retinal diseases. Our RNA therapies use antisense oligonucleotides which are specifically designed to correct the underlying cause of the disease in a person’s RNA to stop disease progression or even reverse symptoms. 

How RNA therapy works

How RNA therapy works

An RNA therapy is designed to correct the mistake, or mutation, in the RNA of someone with a genetic disease. By correcting the mistake, the RNA can then be used to create the protein that the cell needs, taking away the underlying cause of the disease. 

How RNA therapy works

Why focus on RNA therapies?

Why focus on RNA therapies?

RNA therapies can perform the same functions as other types of medicines but have broader applications. If a genetic disease results in a missing or broken protein, an RNA therapy can often correct this. Research at ProQR and other companies has shown promising results and other approved RNA therapies are helping people around the world.

What is RNA?

What is RNA?

RNA stands for ribonucleic acid and it is an essential component of all living cells. RNA is used for ‘translation’, the process in which proteins are created in a cell. RNA itself is produced from DNA, in a process called ‘transcription’. 

How is RNA therapy different from gene therapy and CRISPR?

How is RNA therapy different from gene therapy and CRISPR?

Just like gene therapy and CRISPR approaches, RNA therapies are genetic therapies that aim to take away the underlying cause of a genetic disease. However, the fundamental approach is different. Gene therapy and CRISPR approaches make changes to DNA. These changes are permanent, with the risk of permanent side-effects. Unlike gene therapy, RNA therapies aim to repair RNA, which is a product of DNA, therefore any changes made to the RNA are reversible. RNA therapies are much smaller than gene therapies making manufacturing and delivery easier. 

Targeted therapy and precision medicine

Targeted therapy and precision medicine

All RNA therapies are unique. Every molecule is designed to fit a specific mutation in the RNA with the aim to repair it, making it a highly precise and targeted approach. Scientists at ProQR design our drug candidates using the newest technologies available. We then test our RNA therapies in retinal organoid models, this is a state-of-the-art technique in which patient skin cells are used to grow a mini retina in the laboratory. This way we hope to predict which candidate performs best in humans.

Antisense oligonucleotides

Antisense oligonucleotides

ProQR’s RNA therapies are what scientists call antisense oligonucleotides, or AON or ASO treatment. They consist of short stretches of synthetic RNA that are chemically modified to increase efficiency and uptake into cells. This technique is an established approach to treat genetic diseases and there are approved RNA therapies being used to treat patients today.

Intravitreal delivery

Intravitreal delivery

For a drug to work it first has to get into the body. RNA therapies work best if they are delivered directly to the affected organ. In the case of retinal diseases, RNA therapies can be injected into the vitreous of the eye, which is a cavity filled with a jelly-like fluid. This delivery method is known as an intravitreal injection. Intravitreal injection is one of the most commonly performed procedures for eye diseases. The procedure is performed by eye doctors for common conditions such as age-related macular degeneration, diabetic retinopathy, and retinal vein occlusion. Intravitreal delivery is different from sub-retinal injection used for gene therapy which requires complicated retinal surgery. 

What is intravitreal injection?

What is intravitreal injection?

The entire procedure for an intravitreal injection takes around 10-15 minutes and is performed in the doctor’s office while the patient is seated in a chair. The eye is numbed so the injection doesn’t hurt. Once the eye is prepped, the patient will be asked to look in a particular direction while the medicine is injected through the sclera (the white part of the eye) with a very small needle.