Genetic diagnosis

Hereditary diseases with a genetic basis have been treatable since the introduction of molecular genetic techniques just over two decades ago, and their study forms a fundamental part of integrated and modern medicine. Almost all human diseases have any component of genetic variability; although there are some that are caused fundamentally by the action of only one mutant gene (monogenic diseases) and these are the most susceptible to an effective molecular diagnosis.

More than 13,000 monogenic hereditary diseases have been identified. Of them, around 10,000 genes have been identified (Online Mendelian Inheritance in Man, OMIM: www.ncbi.nlm.nih.gov) in which about 3,000 have been cloned or isolated. The disease etiology is known in more than 1,000 genes.

In most cases, it is feasible to practice molecular diagnosis of the diseases identifying the corresponding molecular alterations or mutations, and providing an accurate prenatal diagnosis and efficient genetic counseling for the affected patients and their relatives.

In some cases the genetic analysis tests do not pursue the causative mutation, because of it is not known or because its identification is too difficult, and they follow an indirect method namely linkage analysis or gene tracking.

Our Molecular Genetic Diagnosis Center is a pioneer in Spain in clinical molecular genetic studies and has been carrying out its activities since 1990 with both health care and research objectives.

Monestir de Brno, on va viure i treballar Gregor Mendel, el pare de la genètica