There are four thousand rare genetic diseases To be considered as rare, a disease has to affect only a limited number of people. In Europe the limit is one case per 2,000 inhabitants. In Catalonia there are 400,000 people affected by a rare disease. In Spain there are three million people. These diseases cluster a very large and diverse complex of pathological conditions, but even they can affect people of all ages, they manifested mainly in the pediatric population. There are over six and seven thousand rare diseases identified in the world. Of these, more than four thousand are genetic.
Some of these diseases are difficult to diagnose because of the lack of experts and also in some cases, there is a lack of satisfactory treatments to cure, prevent or treat symptoms
How does the Center for Molecular Genetic Diagnosis work?
Almost all human diseases have any component of genetic variability, but those that are caused primarily by a single mutant gene (monogenic diseases) are the most susceptible to an effective molecular diagnosis. When the doctor suspects it may be a rare hereditary disease sends the sample to the Centre for Molecular Genetic Diagnosis to confirm or rule out suspicion.
A patient’s DNA sample is used for checking if their genetic information carries alterations or mutations associated with a particular disease.
There are currently about 13,000 described diseases that inherit primarily by the action of one gene. More than 10,000 of these genes have been identified and we have validated knowledge of its etiology (as the cause of the disease) of over a thousand. Therefore, in many 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 counselling for the affected patients and their relatives.
Inherited diseases studied at Molecular Genetic Diagnosis Centre
• Dominant ataxias
• Friedreich’s Ataxia
• Huntington’s disease
• HSP
• Kennedy Disease
• Charcot-Marie-Tooth
• Parkinson’s disease
• Alzheimer’s disease and related dementias.
• Neurofibromatosis type 1 and 2 and related syndromes.
• Cystic fibrosis of the pancreas
In over twenty years the Genetic Diagnosis Centre of IDIBELL has developed a DNA library with over 30,000 anonymous samples of several hereditary diseases and has performed more than 25,000 reports of genetic counseling for these diseases. Thanks to the large number of samples, it has been able to complete extensive research on the origin and transmission of DNA mutations that cause these diseases.
More information about the Molecular Genetic Diagnostic Centre of IDIBELL: http://www.idibell.cat/modul/cdgm/can.