Molecular Research on Inherited Disorders

Dear Colleagues,

Rapid advances have been made in the prediction, detection, understanding, and monitoring of inherited disorders in humans using proteomic and metabolomic technologies. These disorders are genetic conditions that result in metabolism problems. Most people with inherited disorders have a defective gene that results in an enzyme deficiency and/or gain of function. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely. Examples of these disorders include aminoacidopathies, defects of the oxidation of fatty acids, organic acidemias, lysosomal storage disease, and disorders of glycosylation.

The rarity of these conditions places a considerable burden on the individuals affected, and contributes to significant challenges in the medical care of these patients. It is clear that treatments applied as early as possible could greatly improve outcomes for patients.

Molecular research and in  particular proteomics and metabolomics offers great promise in this field. On one hand, they leat to the discovery of new, biologically and clinically relevant biomarkers for inherited metabolic disorders, for both diagnosis and prognosis. On the other hand, they contribute new knowledge in terms of the molecular mechanisms of inherited metabolic disorders. Furthermore the combined proteo-mebtabolomic approaches are developing rapidely, and are particularly relevant in unserstanding metabolic diseases.

The Special Issue will be devoted to molecular research in Inherited Disorders. It will contain up-to-date review articles, plus original research, concerning any aspect of molecular mechanism, diagnosis and treatment of Inherited Disorders to provide a state-of-the-art overview of this fast moving area.

Prof. Margherita Ruoppolo
Dr. Ida Chiara Guerrera
Guest Editors

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