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Technical description

The Genoma 1000 Navarra Research Project (NAGEN 1000) will sequence the whole genomes of patients at the Hospital Complex of Navarra suffering from rare diseases (RDs) or certain types of cancer with a potential genetic origin and whose causes are unknown, and of specific relatives thereof.

It is estimated that around 40,000 people in Navarra have a RD, and many are yet to be diagnosed.

The whole genome of the participants will be sequenced and linked to important details in their medical history. The combination of these two sources of information – the genomic and the clinical – may help medical teams to discover the causes of some diseases, produce diagnoses, or provide a more personalised treatment to some patients.

The human genome is the collection of genetic information that is stored as DNA in each of our cells. 1 to 2 percent of the genome codes for around 20,000 genes (the DNA fragments or instructions that govern the operation of the human body). Certain gene alterations are directly responsible for the 4,000+ hereditary diseases that are known today, and may also be behind the different responses of human bodies to some pharmacological treatments. Many hereditary diseases are very rare – the so-called ‘rare diseases’ – and others are as common as cancer. Some of these disorders are studied by means of conventional genetic studies, which up until now have been very limited in scope. The remaining 98 percent of our genome does not contain genes and it is not clear to this day whether this ‘non-coding’ portion is associated with illnesses. Owing to its large size, it was unmanageable to study by conventional techniques, but recent, important technological advancements have made it possible to study the entire genome simultaneously (over 3.2 billion variable elements). It is now believed that the analysis of this huge amount of information may be paramount to our health, and it is the foundation of the new genomic medicine.