Rare Disease Day 2017

Novinky 5. March, 2017

28 February 2017 is the international Rare Disease Day. It raises awareness and warns of diseases that have a wide spectrum of manifestation and significant impact on the life quality of affected individuals. The most common rare diseases are cystic fibrosis and spinal muscular atrophy, among other are Huntington disease, Marfan syndrome, muscular dystrophy or neurofibromatosis.

These diseases are defined as rare, despite the fact that we know more than 8.000 different types of diseases that relate to 5 % of people. They are often diagnosed in new borns and infants, but there are also late onset diseases which may occur in the middle age.

Those rare diseases have very often genetic origins and therefore may be transmitted from parents to offsprings. However, at the present there is a method that can prevent from transmission of such diseases to the next generation. The method of preimplantation genetic diagnosis (PGD) detects mutated gene that causes the disease, even on embryos. Thanks to this method we can give a chance to healthy child even for risk couples. Please read more about the PGD method which we can assure for you.