The Unit Diagnosis and Treatment of Congenital Diseases of Metabolism from the department of Pediatrics, University Hospital of Santiago has a proven track record and prolonged investigation and diagnosis of rare diseases and specifically neurometabolic diseases. Functionally, the unit for diagnosis and treatment of congenital metabolic diseases is a reference center for the whole country (CESUR), with shelter for all patients with these diseases.

Dra. Mª Luz Couce Pico, as coordinator of the Unit, is leading several projects and clinical trials on metabolic diseases and is a member of the group of rare diseases CIBER CB06 / 07/0040, being at present national coordinator node for CIBERER Spain in the study: European network and registry for homocystinurias and methylation defects- EHOD approved by European Commision-The Executive Agency for Health and Consumers.

The research group of the unit has developed in recent years three pilot projects based on technology of mass sequencing (NGS) for selective re-sequencing of genes related groups 1) Monogenic Diabetes (IP: Dra. Marmiesse); 2) Lipodystrophies (IP: Dra. Marmiesse) and 3) lysosomal storage disease (LSD) (PI: Dr. Cocho). These diseases are derived from childhood metabolic defects are difficult to diagnose; especially lysosomal diseases represent a huge burden on the NHS. The implementation of these projects has enabled us to explore the weaknesses and strengths of the application of NGS technology to clinical diagnosis.

To our knowledge our group is the first center of Spanish healthcare system that has developed and incorporated genetic panels applied to clinical diagnosis based on mass sequencing technology.

The purpose of NeuroMeGen is to accelerate the diagnosis of neurodegenerative and metabolic disorders in children, minimizing both the time of diagnosis and the cost to the NHS. Developed diagnostic panels simultaneously analyzed a total of 1500 genes (this number will increase as new scientific discoveries founds genes involved in such diseases) within 2 to 4 months. With them pediatricians can diagnose the patient in a significant percentage of cases or discard a large number of patients who are in their differential diagnosis.

Research Projects