Translational Bioinformatics

Translational Bioinformatics

Personalized medicine is an emerging medical discipline that involves the use of genomic information from an individual as part of its medical care. It has the potential to tailor therapy with the best response and highest safety margin to ensure better patient care. To achieve this, an effective integration of clinical and genomic data is mandatory, as well as a comprehensive analysis of the increasing amount of genomic data.

In this context, we apply cutting-edge bioinformatics methods in order to offer patients an accurate diagnosis and personalized treatment options.

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Overview

Brief intro to personalized medicine.

 

Rare diseases

A Rare Disease (RD) is defined in the European Union as those with a prevalence of less than one among 2000. Although any individual RD has a very low prevalence, there are between 6000 and 7000 RDs, which results in a collective prevalence similar to the observed in many common diseases, constituting a substantial health problem. It is difficult to have a real assessment of the number of people affected by an RD, but conservative estimations point to about 3 million people affected only in Spain, which represents a 6% of the population. Despite molecular cause is known for a significant number of RDs, there are specific treatments available only for a small fraction of them (less than 5%).

One of the main problems of RD is the lack of an effective treatment due to the absence of a proper diagnosis, with X% of patients being undiagnosed. However, as previously mentioned, RDs as a whole are a serious health problem, being, most of them, remarkably detrimental for patient life quality. Furthermore, many RDs present complications or comorbidities derived from the lack of treatment, which constitutes an extra socioeconomic burden. Additional to this is the lack of independence of the patient, which causes psychologic prejudices and prevents his/her career development. Nevertheless, an adequate diagnosis and treatment, allows patients to arrive to have a considerable improvement in their life quality and that of their families. However, many RD patients experience a delay in their diagnosis, that can last months, years or even its entire life. Most families identify this delay as one of the main concerns related to its struggle with the disease. Not knowing what is going on and how to deal with it adds a weight to the burden that families have to bear.

This is why we, as a clinical community, have the duty to offer a diagnosis in the most accurate and fast way possible, making use of all tools available, including NGS and its analysis.

Familial cancer

Familial cancer is defined as . Many genes involved in cancer predisposition are well-known, however, many remain undiscovered. Although the individual incidence of rare tumors is quite low, rare cancers account for about 22% of all cancers diagnosed worldwide, disproportionately affecting some demographic groups and comprising all tumours occurring in childhood and adolescence, which makes it a health concern. Moreover, given that some rare tumors incidences are rising in the last decades, these percentages are likely to increase further, since more people require treatment and treatment expenses arise. Cancer is one of the diseases with more comorbidities, including cardiovascular diseases, osteoporosis and psychosocial stress. This fact, combined with the devastating secondary effects of most cancer therapies, can create an extreme disruption in all aspects of the life of a patient and his family. Moreover, cancer diagnosis leads to a complex set of issues, including dealing with physical symptoms from the disease and treatment, and facing ongoing uncertainty about their future, which affects personal and professional fulfillment. Being able to identify cancer predisposition in advance, can offer patients an opportunity to be conscious of their disease, and to be able to monitorize it and have a preventive early diagnosis, allowing their access to treatment and heavily increasing their survival chances. Moreover, gives patients a feeling of disease control, giving them tools to deal with the psychological aspects of the disease.

 

Integrative analysis

Discovery of new functional candidates

Study of reproductive risk, predisposition to disease and pharmacogenetics

 

People

 

María Peña Chilet

Rosario Carmona

Virginia Aquino

Ana María Pérez

 

What we do

A glimpse of what we actually do to obtain a diagnosis

Although we never get to meet with the patients, we take our time with each of them, when possible, we read through the whole clinical data of the patient and perform thorough analyses. We always bear in mind that a patient and its family’s life depend on a proper diagnosis, so we care about the data and always try to get the whole picture in mind, being aware that data are actually people.

 

The importance of being a piece of a whole

CIBERER

FEDER

Elixir-INB

 

Projects

NAGEN (sacar info del proyecto por ellos)

https://www.navarrabiomed.es/es/actividad-cientifica/proyectos-de-investigacion/nagen-proyecto-genoma-1000-navarra

https://www.navarrabiomed.es/es/actualidad/el-proyecto-nagen-1000-permite-diagnosticar-enfermedades-raras-de-origen-gen%C3%A9tico

 

COHORTES

ENOD

Undiagnosed SSPA

 

Some stats

 

Related news

 

Variant prioritization pipelines, etc

 

Briefly