The Alliance des Maladies Rares du Maroc (AMRM), with the support of the laboratories Sanofi, Roche and Bohringer Ingelheim and on the occasion of the international day of rare diseases, organizes on February 25, 2023 at the Marriott hotel in Casablanca, the fourth day of rare diseases under the theme “rare diseases and heredity”.
Heredity and genetics play an important role in the genesis of rare diseases. Indeed, regarding 80% of them are of genetic origin, they originate in our chromosomes, in the famous DNA molecule.
These diseases are usually transmitted from parents to children. The laws of this genetic transmission are well known. It is done either according to the dominant mode: it is then enough for one of the parents to be a carrier of the altered gene for the child to have a 50% risk of developing the disease. Elsewhere, the transmission can be of the recessive type: each of the 2 parents will have a single copy of the faulty gene, insufficient to make them sick, but their child by grouping the 2 copies will have a 25% risk of presenting the disease. Consanguineous marriage, still frequent in Morocco, increases the risk of recessive genetic diseases.
Over the past twenty years, the genetic diagnosis of rare diseases has undergone a major revolution, thanks to new techniques for analyzing the entire human genome. The progress of this technology, called sequencing, has been dazzling: the time for its realization has gone from more than a year to less than a day and its cost has gone from tens of millions of dollars to a few hundred dollars.
These new techniques have paved the way for gene therapy, another way of treating genetic diseases by replacing the diseased gene with a healthy one. Illnesses hitherto incurable and disabling thus see their chance of cure come true.
The purpose of this meeting is to sensitize the medical profession to rare diseases and to draw attention to the need to improve the genetic diagnosis of rare diseases in our country for their better management and to know the risks of recurrence of illness in a family.
