Advances in Genetics and Genomics of Intellectual Disability
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (20 July 2022) | Viewed by 381
Special Issue Editors
Interests: neurodevelopmental disorders; autism; epilepsy; copy number variations; genomic syndromes; next-generation sequencing; genotype–phenotype correlations
Special Issues, Collections and Topics in MDPI journals
Interests: linkage analysis; candidate gene; genetic diseases; neurodevelopmental disorders; epilepsy; genomic syndromes; next-generation sequencing; genotype–phenotype correlations; iPSCs
Special Issues, Collections and Topics in MDPI journals
Interests: neurodevelopmental disorders; epilepsy; autism spectrum disorders; next-generation sequencing; copy number variations; genotype–phenotype correlations
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
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We encourage submissions of unpublished original manuscripts (research articles, reviews, and communications) to have a strong genetic component describing recent advances on all aspects related, but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
Manuscript Submission Information
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Keywords
- ID-related genes
- new syndromic and non-syndromic forms of ID
- neurodevelopmental disorders
- genotype–phenotype correlations
- non-coding RNAs and ID
- next-generation sequencing
- chromosome microarray analysis
- animal models
- iPSCs
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