Hospital Universitario de La Ribera participates in the national rare diseases survey coordinated by the prestigious biomedical research in Network Center.

-experts consider strange those pathologies of very low prevalence – 5 cases per 10,000 population – and has an incomplete understanding regarding their diagnosis, its evolution and its treatment

– according to experts9 out of 10 cases with a rare disease are caused by an alteration of the chromosomes or unknown genetic mutations

Alzira, March 2012.- El Hospital Universitario de La Ribera is currently engaged in the national study on birth defects or malformations coordinated by the prestigious Centre of biomedical research in network (CIBERER)an entity of the Instituto de Salud Carlos III. The objective of this programme, called the research on the clínico-etiológicos aspects of children born with malformations and other birth defects is to establish a register of newborns with defects that deepen in the classification and management of rare diseases.

Precisely, yesterday held the world day for rare diseases.

As a member of this platform for research, which involves other hospitals of Spain, La Ribera is one of the health centres responsible for collecting and registering all clinical and genetic information of cases. To do so, the Paediatrics Service of the hospital of Alzira studied in each case more than 250 items related to factors such as the weight and the height of parents, maternal age, habits, behaviour, nutrition, consumption of alcohol, tobacco and drugs, family history or ethnic group of parents.

Rare diseases

The experts considered rare those pathologies of very low prevalence – 5 cases per 10,000 population – and has an incomplete understanding regarding their diagnosis, its evolution and its treatment.

Today there are more than 7,000 types of rare diseases and in most cases specialists are unaware of the true origin of the anomaly. Therefore, one of the main challenges in any rare disease research is the identification of that cause genetic alterations of pathology.

According to experts, 9 out of 10 cases with a rare disease are caused by an alteration of the chromosomes or unknown genetic mutations. In the words of the DRA. Graciela Pi, pediatrician in the Hospital Universitario de La Ribera, 10% of the pathologies are caused by external or environmental factors such as the consumption of alcohol, drugs or drugs. ”

according to the DRA. PI, knowing the root of disease is essential to offer affected families new therapies in the context of the so-called medicine custom. ”

research on the clínico-etiológicos aspects of children born with malformations and other birth defects