Human Developmental Disability, Neurogenetics and Rare Diseases: From Basic Science to Genetic Counseling

Dear Colleagues,

Since the advent of next-generation sequencing (NGS), both whole exome sequencing (WES) and whole genome sequencing (WGS), we have seen rapid progress in gene discovery and diagnostics for developmental disabilities (DDs) as a whole, and rare DDs in particular. As a result, rare diseases have become more amenable to diagnosis and treatment innovation and are, as a result, considerably less ‘orphaned’. For example, bi-allelic mutations in approximately 16 of the 27 genes encoding portions of the glycosylphosphatidylinositol (GPI) biosynthesis pathway result in inherited GPI biosynthesis defects (GPIBDs), that, taken together, make up 0.15% of all DDs.

In this ‘Special Issue’, we present articles outlining innovation in the molecular genetics, biochemistry, and treatment of DDs in general. In addition to contributing to the literature on gene discovery and molecular biology, we hope our efforts will facilitate: 1) awareness of rare or undertreated developmental disabilities; 2) discussion of how improved diagnostics leads to improved treatment options for patients and their families in the context of genetic counseling; and 3) discussion of the use of animal and cell models of DDs in order to better understand disease processes, facilitate drug development, and establish clinical trials.

Dr. Miles D. Thompson
Prof. Dr. Arnold Munnich
Guest Editors

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