Life and Matter Sciences Events in 2019

Rare diseases

Rare diseases constitute a health problem that must be addressed from the principles of public health and from the comprehensive care of the health system. The problems and needs of the diagnosis of rare diseases and genetic and genomic studies in our country were discussed at the International Symposium Genomic Medicine.

Producing the right quantities of proteins for their function within and outside the cells is of fundamental importance. These two processes control cell compartmentation and its effects on the neighboring cells. The International Symposium  Proteostasis and protein secretion brought together experts that presented their new findings and future directions in order to help us understand normal human physiology and how to manipulate pathologies linked to dysregulated proteostasis and secretion.

Rare diseases are a health problem that must be addressed from the postulates of public health and from comprehensive care of the health system. When the disease does not have a diagnosis, the entire biological, psychological and social process of the child or adolescent and of his/her own family is affected. Not a few children lack an early diagnosis of what we assume is a rare disease (or a rare presentation of a more common disease). The experts discussed these topics at the symposium Undiagnosed and rare diseases in children and adolescents: Translation to clinic and society.

The estimated prevalence of Autism Spectrum Disorders (ASD) has dramatically increased in recent years. Genetic diagnosis is essential for a proper genetic counselling, to predict and to anticipate co-morbidities and to progress in personalized medicine and treatments. In order to try to better understand the disorder, specialists gathered at a symposium