(mentions CMT) The genetic selection allows that the first baby without a heredi

[Guest guest]

Translated from Spanish by Babel Fish

The genetic selection allows that the first baby without a hereditary

ailment is born in Spain

http://www.elpais.com/articulo/sociedad/nina/tendra/huesos/cristal/elp

epusoc/20080805elpepusoc_3/Tes

This girl will not have ' bones of cristal' The genetic selection

allows that the first baby without a hereditary ailment is born in

Spain that causes to fractures all the life

Madrid - 05/08/2008 It had 50% of probabilities of being born with the crystal

bones, but a technical outpost of selection has avoided genetic it. For the

first time, a Spanish baby has been able to escape of this serious well-known

hereditary disease to cause to manifolds bony fractures during all the life. The

girl, born yesterday in Alicante, has come to the free world of the imperfect

osteogénesis. She will be able to make a life normal. "

Before only we could know if the baby had the disease as of the

fourth month of gestation. If the mutation existed, the then mother

decided if she aborted or no. Era very duro " , she indicates to

ELPAÍS.com the director of the genetic training center Genomic

Systems, , who has worked in the case next to the center

of attended reproduction CREATES of Valencia. ' children probeta'

they are already three million A group of affected Cordovan by the

disease of ' bones of cristal' it creates an association Identified a

new gene that causes ' bones of cristal' The news in Spanish is other languages

The Genetic Diagnosis Preimplantacional (DGP), also known like genetic selection

embryos, implies the combined use of techniques of attended reproduction and

molecular genetics.

In the case of the girl of Alicante, the director, the parents explains, who are

natural of Elche, were put under a treatment of test-tube fertilization, from

the technique of espermática microinjection. Some cells of the produced embryos

happened through examinations and it was discovered that two of the five embryos

were totally healthy. In December of the past year SHE CREATES, in charge of the

attended reproduction, transferred the free embryos of the disease to the

uterus. It was the second attempt of the pair, that from the 2006 a son looked

for. In first, in March of 2007, eight embryos were obtained, of which two four

were healthy, but the pregnancy did not leave ahead.

According to , in the people with this disease the lack of an enzyme causes

that the bones are broken with any blow or fall. In this case, the mother of the

girl and several members of the family are affected by this genetic pathology.

The girl of Alicante breaks therefore the process of transmission of this

ailment. " The best thing is than this girl is totally healthy. That is, their

children do not have risk of having the disease. Cadena " is had broken; , it

emphasizes the director of Genomic Systems.

The person in charge of the Unit of Reproductive Genetics of Genomic Systems,

Xavier Vendrell, is outstanding that the application of the technique of DGP in

this new case " it is an example of how they are extended day to day the number

of diseases that can be detected in embriones " . On the other hand, doctor Carmen

Calatayud, director of CREATE, have affirmed that " correcto " bases of the

success consists of realising a diagnosis;. The alterations that the imperfect

osteogénesis brings about include/understand from the predisposition to the

fractures to the low stature, very severe skeletal deformations and the

perinatal death (in dates next to the

childbirth) in their more aggressive forms. Also it can even inflict

casualties to disturbances in the teething and of hearing.

The use of techniques similar to the employee in the case of the baby who could

already suffer the disease of the crystal bones has allowed to obtain the birth

of healthy children of afflicted parents of quística fibrosis, muscular

dystrophy of Duchenne, hipocaliémica periodic paralysis and other chromosomic

diseases.

At the moment they are working in many other diseases like the syndrome of

Pfeifer, the disease of Charcot-Marie-Tooth, the miotónica dystrophy of Steinert

or the syndrome of Marfan.