On the occasion of World Rare Disease Day.

• Evolution of Genetic Diagnosis techniques and improvements in embryos culture allowed in the past few years to reach very high chances of healthy descendants 

• CREA and Sistemas Genómicos have set themselves up as reference centres for births of healthy babies from parents affected or carriers of rare disorders, as cystic fibrosis, Duchenne muscual distrophy, osteogenesis imperfecta or Marfan syndrome, among others. 

• They are currently prepared to study approximately 200 hereditary diseases in couples carriers 

Valencia 27.02.15 80% of rare diseases are genetic. This has been pointed out by Assisted Reproduction Medical Centre (CREA) and Sistemas Genómi-cos on the occasion of World Rare Disease Day tomorrow. According to ex-perts, genetic plays a very important role from a preventive point of view. 

In this sense, according to Crea and Sistemas Genómicos experts, the ge-netic selection of healthy embryos, also known as Pre-implantation Genetic Screening (PGS), is the best reproductive option to avoid transmission of se-vere hereditary diseases. This option, increasingly requested, avoids the birth of babies affected by hereditary diseases as it prevents their transmission, from generation to generation. This technique only selects healthy embryos, genet-ically analyzed and generated by in vitro fertilization techniques, before their transfer into maternal uterus and before the pregnancy occurrs. It’s “a fact of great importance not only in social terms but also health ones, considering that most of them have no treatment and the average estimated time of diagnosis is 5 years”. 

It’s important to take into account that currently 7% of the world population is affected by rare diseases. As concerns Spain there are more than 3 million people affected and more than 7.000 rare diseases (considered as rare when they affect one out of 2.000). 

According to Dr. Carmen Calatayud, CREA’s co-director, “the children of these cou-ples, if they are not recurring to genetic screening, have high chances to suffer from these diseases or to be carriers and to transmitt them to their descendants. Strict cooperation between specialists in genetic and in reproductive medicine is especially important in these cases and it’s fundamental that the assisted reproduc-tion laboratory is specifically prepared to carry out these treatments, because, once that the embryo diagnosis is done, it’s necessary to achieve that it has the best chances to implant and to evolve until the birth of a healthy boy or girl”. 

On the other hand, the Head of Genetic Unit of Sistemas Genómicos, Dr. Xavier Vendrell, has stressed out that the new diagnostic methods allows shortening the time of detection and diagnosis of rare diseases which in some cases may arrive up to 15 years. According to his declarations “progresses in diagnostic techniques allows in many cases, obtaining a specific genetic diagnosis in a very short time, between 20 days and 3 months, in our laboratory, permitting couples with a genetic risk of disease’s transmission to take a fast decision regarding its reproductive future”.

In this sense, he added that, although there is no treatment for most of these diseases, “the fact of achieving a genetic diagnosis is very important, as it allows to know beforehand the disease’s evolution, to carry out preventive therapeutical actions, to perform a strict clinical monitoring of the symptom’s appearance, as well as to recur to the genetic selection of the embryos as to avoid the disease’s transmission to their descendants”.“Embryo genetic diagnosis before implantation into maternal uterus, is one of the most requested reproductive options by couples with genetic risk and that gives them more safety, also avoiding the emotional impact of facing a possible pregnancy interruption”. 

Lastly, Dr. Carmen Calatayud has stressed out that when a couple carrier of hereditary disease wishes to have children, it’s necessary to perform a tailor-madre genetic screening to know the genetic cause of their pathology. Accord-ing to Dr. Calatayud, “nowadays it’s possible to analyze and diagnose with suc-cess the majority of these diseases as we have at our disposal molecular genet-ic technology to approach any genetic disease that might occurr as an alteration of a unique gene”. 

CREA and Sistemas Genómicos have been cooperating over ten years now, in order to eradicate these diseases in descendants of couples who are affected or carriers of a genetic disease wishing to have healthy descendants. During this time they have helped a large number of couples to have healthy children. In the last years, CREA and Sistemas Genómicos set up as reference centres for reproductive treatment of these genetic diseases that, due to their low frequency and technical complexity of diagnosis, are often left out of studies carried out by public health systems. Currently both centres are prepared to study approximately 200 hereditary diseases in couple carriers. 

We can name among the diseases treated: Propionic Acidemia, Muscular Spi-nal Atrophy, Charcot-Marie-Tooth, Facioscapulohumeral muscular dystrophy, Steinert myotonic dystrophy, Duchenne muscular dystrophy, Multiple Exosto-ses, Cystic Fibrosis, Type I Gangliosidosis, Huntington disease, X-linked ich-thyosis, INCONTINENTIA PIGMENTI, OSTEOGENESIS IMPERFECTA, Hypokalaemic Periodic Paralysis, Familial Adenomatous Polyposis, Darier-White Syndrome, Marfan Syndrome, Van der Woude Syndrome.re the age of 35 in order to ensure a better ovarian quality and thus better chances in the future.