Potocki-Shaffer Syndrome is a rare contiguous gene syndrome that results from the micro-deletion of section 11.2 on the short arm of chromosome 11 (11p11.2). The disease is characterized by variable impairments in the development of the bones, nerve cells in the brain, and other tissues. In an effort to shed the light on this underexplored disease and identify the disease causing genes, their function, and biological paths, we undertook an integrative informatics approach that integrates advanced sequence analysis methods with systems biology approaches. Preliminary results highlighted several important disease-causing genes such as ALX4, PEX16, MAPK8IP1, GYLTL1B, C11orf94 and PHF21A. All of these genes are considered largely understudied from a drug discovery perspective and therefore, they are not linked to any drugs. Our ongoing research efforts are now focusing on the assessment of the target druggability of the identified genes for further clinical development.<br/>

Integrative informatics approaches for unraveling the mysteries of rare diseases: Shedding the light on Potocki-Shaffer syndrome

256th National Meeting (2018)

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