Genetics and Genomics of Intellectual Disability

Dear Colleagues,

Intellectual disability (ID) is a common neurodevelopmental disorder characterized by an intelligence quotient (QI) lower than 70, associated with functional deficit in adaptive behavior. ID represents a major challenge in medicine, being the most frequent cause of handicap in children (nearly 3 out of 100 babies are affected) and the main reason for referral in clinical genetic centers. Although the identification of underlying genetic defects and risk factors has increased significantly with the help of diagnostic technologies in the last decade, the mechanisms underlying the pathophysiology of this disorder remain elusive and, consequently, effective treatments have not yet been established. Finding a specific cause for ID has the potential to lead to more effective early intervention, targeted treatments, anticipation of comorbidities, and counselling for parents about prognosis and recurrence risk.

We encourage submissions of unpublished original manuscripts (research articles, reviews, and communications) to have a strong genetic component describing recent advances on all aspects related, but not limited, to the following topics: functional studies for ID-related genes or variants, gene expression analyses, rare variant analyses, animal models, iPSCs, non-coding RNAs and ID, clinical and molecular description of new syndromic and non-syndromic forms of ID, and genotype–phenotype correlations.

Dr. Orazio Palumbo
Dr. Massimo Carella
Dr. Pietro Palumbo
Guest Editors

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