28 February, International Rare Disease Day

disease rare

Currently, preimplantation genetic diagnosis (PGD) conducted by fertility clinics like ProcreaTec reduces the risk of passing on rare diseases by 98%

According to the Spanish Federation of Rare Diseases, rare diseases are:

Illnesses that have a low incidence rate or occur infrequently within the population. To be considered rare, each specific disease can only affect a limited number of the total population, defined in Europe as less than 1 per 2,000 citizens (EC Regulation on Orphan Medicinal Products).

It is estimated that approximately 6-8% of the population worldwide will be affected by these illnesses. This equates to 3 million Spanish, 27 million Europeans and 25 million US citizens.

Patients of these diseases, and associations that support them, underline the importance of knowing more about these diseases. They can happen to anybody at any time and are sometimes diagnosed at advanced ages.

How can we prevent them?

Fertility clinics like ProcreaTec offer an extensive range of treatments and techniques provided by exclusive genetics labs such as Reprogenetics. This enables only healthy embryos to be transferred, preventing hereditary diseases from being passed on from carriers to their children.

Techniques such as PCR or ARRAY-CGH prevent the following diseases:

–   Huntington’s Disease

It is a chronic progressive disease with an average life expectancy of 15 years in its final stage. Symptoms of the disease include rigidness and kinesis with dysplasia, and the most common complication resulting in death is pneumonia.  There is a 50% probability of passing the disease on to offspring and preimplantation genetic diagnosis treatment should be used to prevent the disease; PCR molecular testing is able to diagnose the disease with 100% certainty. It has an incidence of 1 in 20,000.

–   Myotonic Distrophy.

It is the most common type of muscular dystrophy with an incidence of 1: 8000. It is transmitted by the mother and is autosomal dominant. PGD prevents it from being transmitted to the affected mother’s children.

There are two types I and II (NFI) and (NF2) and there are many mutations in the genes that carry this disease which can reappear in offspring. PGD stops children from being born with abnormalities. People with this disease are affected by the uncontrolled growth of irregularly shaped tumours throughout most of the body.

–   Haemophilia

It is a common disease that prevents blood coagulation. Women are carries of the disease and men develop it. Genetic testing can be conducted to prevent it.

–   Cystic fibrosis

This is one of the most common recessive diseases among people of European descent, leading to fatal chronic lung disease in the patient. Carriers of cystic fibrosis mutations can transmit them to their offspring.

Although these are minority diseases, their continued diagnosis, identification, isolation and prevention of hereditary transmission is the responsibility of everyone. PocreaTec conducts periodical clinical trials to study cases which, like rare diseases, need specialised treatment plans. As a result of PGD techniques, treatment is highly effective.

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