PCR, immunoglobulins, genome, or gene therapy are some of the scientific terms that are gradually becoming part of our everyday vocabulary. Scientific advances in molecular biology have meant a revolution in medicine, especially in rare genetic diseases, another reference letter increasingly familiar. They are so named because they are rare, affecting less than 5 per 10,000 inhabitants, that is, more than three million people in Spain (6% of the population).

There are about 7,000 rare diseases, pathologies of a chronic and degenerative nature, most of which are genetic in origin. They are caused by small changes in one of the 30,000 genes organized in the 46 chromosomes of our genome. In other words, a needle in a haystack. The application of molecular biology techniques is making it possible to accurately detect the origin and causes of the symptoms and also to propose personalized solutions for each disease and even for each individual, almost "à la carte".

For some of these diseases, personalized treatment is already a reality. There are up to seven genetic treatments approved by the American and European health authorities available to patients. These treatments are advanced gene therapy therapies aimed at curing diseases of the blood, such as beta thalassemia anemia; of vision, such as Leber's congenital retinal amaurosis, or affecting the ability to move in spinal muscular atrophy. For other ailments, only relief of discomfort has been achieved, but they are a stepping stone to a cure.

Today we celebrate the International Day of Porphyria patients, one of these diseases whose research is offering hopeful results. According to the European Porphyria Network ( network ) about 6 thousand Europeans suffer from this disease, in Spain there are between 500 and 1000 people affected. Porphyrias are diseases that affect the production of heme, a molecule with multiple and varied functions in cells, such as energy production. A defect in one of the genes that regulate (as if they were traffic lights) the heme training , causes one of the two different types of porphyrias: those affecting the blood (red blood cells or erythrocytes) and those affecting the liver. In the blood, heme financial aid transports oxygen from the lungs to the other organs. And in the liver, heme is an essential element that manages and eliminates toxic waste generated by our body or received from the outside.

In the blood, porphyria is caused by a mutation that results in a clogging of molecules called porphyrins. The accumulation of these molecules causes severe damage to the area of skin exposed to sunlight. As a consequence, children and adults suffering from these porphyrias have to remain confined during the day or go outside completely covered. Recently, a subcutaneous implant has been developed that accelerates tanning without the need for sun exposure. This artificial tan works as a protective layer that increases the time of exhibition in the sun. Although it improves the quality of life of patients, it does not solve the origin of the disease. In this sense, a couple of promising research projects are underway: one manages to repair the defect in one of the genes that causes one subject of porphyria - erythropoietic protoporphyria - and the other, to improve the function of the defective protein in another subject of blood porphyria - congenital erythropoietic -. Work is underway to test it in patients in the near future.

In patients with hepatic porphyrias, metabolic blockages may occur in the liver that accumulate toxic substances that travel through the blood to the nervous system. This can be caused by certain medications, strict diets, viral infections or prolonged stress. However, the main factor is the female hormones associated with the menstrual cycle, so young women with work and family responsibilities are the most vulnerable group. Symptoms begin with unrelenting abdominal pain, hypertension, insomnia, depression, motor coordination problems and even hallucinations. In some cases kidney damage and severe neurological complications occur, the only cure for which is liver transplantation.

Recently, a new drug that prevents the training of these toxic molecules and reduces most of the symptoms in severe patients has been C . At Cima University of Navarra we are working on new drugs that eliminate the clogging in a few hours. We administer an "informative" molecule (a messenger RNA) that teaches the liver to make its own "drug". The core topic is its transport, which we carry out by means of lipid nanocapsules that allow the treatment to be repeated as many times as necessary. In another preclinical study, we attached this "drug" to a component of the blood itself which transports it to where toxins accumulate (the liver and the nervous system). Its great advantage is that the patient would self-administer it (like a shot of insulin in diabetics) to put an end to the pain, without having to go to the hospital.

status In addition to these advances, it is relevant to mention that, in the few cases studied, it has not been detected that the new coronavirus could adversely affect those affected with porphyria.