To date, there are over 400 known diseases resulting from genetic alteration. Globally, they affect about one in every 1000/1500 individuals, but for some of these conditions very few individuals have been diagnosed and reported. Discovering the causes of these rare blood cell diseases is very important in order to provide the appropriate answers in terms of therapy and genetics.

The Verga Committee’s research centre has developed a project to fund all the molecular analyses required to discover and assess alterations in blood cells (white blood cells, platelets and red blood cells) that can potentially cause serious infections, autoimmunity, allergies and cancers.

This complexity requires the ability to assemble a true ‘jigsaw puzzle’ of data and multidisciplinary investigations in order to arrive at a genetic definition (molecular diagnosis) of the disease and permit a correct understanding of the alteration underlying a child’s symptoms.