Molecular Basis of Rare Genetic Diseases

Dear Colleagues,

According to the World Health Organization, rare diseases affect 65 out of 100,000 individuals. Around 80% of rare diseases are genetic, and the majority clinically manifest in childhood.

Currently, specific treatment are available for several genetic diseases that improve the patients’ life expectancy and quality and reduce the mortality risk. Knowledge of the molecular basis of rare diseases is important, both for making appropriate diagnoses and for developing specific therapies. In addition, early diagnosis is also important so that specific or supportive therapies can be started as early as possible.

In this Special Issue, we will bring together contributions that help to identify the molecular basis of rare diseases. Review or original articles that address this are welcome. 

Prof. Dr. Paulo Ricardo Gazzola Zen
Guest Editor

Dr. Rafaella Mergener
Guest Editor Assistant

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