The exome: From the study of the symptoms to mutations of genes

In this post we discuss about the wide application of exome sequencing in the clinical sector.

Exome is responsible for much of the final performance of our body. The exons contain important information which, when it is decoded, it determines the development of tissues, organs and finally, living organisms.

secuenciacion-de-exoma-espanaTherefore, the whole exome sequencing is becoming vital for the diagnosis of diseases. Thus, it allows to find precisely the genetic causes of diseases and disabilities.

Now, it is already possible to obtain an accurate diagnosis, with the possibility of offering adequate treatment.

In this post we show the illness of Vincent Pieterse, a child for which the exome sequencing was decisive.

Although Vincent was born completely healthy, certain symptoms of autism began to manifest when he was age 8, as well as lack of muscle mass, extra teeth and an enormous elasticity in the skin.  However, conventional genetic studies and investigations of neurological diseases were not able to clarify the problem. The child did not have a family history of these symptoms.

Vincent had a disease that did not coincide with the typical symptoms of DBA, a kind of anemia known as Blackfan-Diamond anemia. 

Exome sequencing of Vincent and his father Marc, allowed to find a mutation in the genes of the boy. This mutation had not been associated so far with the DBA. The discovery would not have been possible without the conviction of the parent as to the disease of Vincent.

Fortunately, Marc could contact with other researchers who were interested in his disease. In addition, they put at the disposal of the family all the technology and knowledge needed to carry out the analysis of the exome sequencing.

Today, the exome sequencing has become a main tool in the process of diagnosis in genetic diseases, although a few years ago it was used only as proof of disease.

In this way, it has reversed the order of performance, at least in some centres.  Now, rather than making the exome study in last place, it has become the starting point from which to determine the disease that affects the patient.

No doubt, the success of Vincent will no longer be news and it will only become a positive result from an analysis widely popularized in the clinical sector.

Bioarray has a team of specialists in clinical and research exome sequencing. Contact us.