Appointment of Antonia Ribes, Group leader
We strive to improve diagnostics in patients with inherited metabolic diseases, and find treatments to help change their natural history

Current research

Problem

According to the latest data, fifty per cent of people who suffer from inherited genetic diseases are not diagnosed. The main reason lies in the clinical diversity of their symptoms: not all genetic alterations can be easily detected and although it is now possible to perform genomic studies on each person, the pathological significance of many of the genetic variants identified is not known and this makes it difficult to obtain a conclusive diagnosis.

Inherited diseases generally require personalised therapies that cannot be offered without a conclusive diagnosis, and the absence of a clear diagnosis makes it difficult to access treatment and adequate genetic counselling.

Approach

The group’s strategy to improve the diagnosis and treatment of inherited genetic diseases consists of the combined use of modern, innovative techniques (genomics, transcriptomics, proteomics and metabolomics) with traditional biochemical studies and cell biology.

It has implemented methods that make it possible to determine whether or not the genetic variants identified cause a particular disorder, so that a conclusive diagnosis can be established. These studies are conducted using samples obtained directly from patients and cell models genetically identified in the laboratory.

Impact

The group has identified new genes associated with different diseases. Its objective is to continue to identify new genes to improve the diagnosis of inherited metabolic diseases.

It will also continue its research and development of drugs that improve the quality of life of patients and their families. In some cases, new therapeutic options may become available, and in others, adequate genetic counselling.