About this Research Topic
Consanguinity is common in multiple regions, particularly in the Middle East and Africa, and can have positive and negative consequences. A significant proportion of genetic diseases manifest as neurological disorders. Neurons are long-lived cells mostly created during the development and persist throughout life. The inherent biological properties of neurons make them more susceptible to genetic diseases.
In this Research Topic, we are going to address the roles of consanguinity in rare genetic neurological diseases. As their name implies, individual rare genetic diseases have low frequencies in the general population. When considered collectively, rare genetic diseases account for a substantial public health burden. Studying rare neurological genetic diseases has identified important genes and pathways essential for human health and implicated in the pathogenesis of rare diseases as well as multiple more common genetic and non-genetic neurological diseases.
The recent advances in sequencing and gene-editing technologies have revolutionized research on rare genetic diseases. The increasing availability of population-level and patient-level data facilitated the discovery of new disease-causing genes. Gene-editing technologies have been used extensively in validating the pathogenic effects of multiple genes and as effective tools for gene therapy. The recent drop in the costs of studying rare genetic diseases led to an increased representation of historically understudied populations in the scientific literature. This includes populations with very high rates of consanguineous marriages.
The present Research Topic aims to provide a platform for researchers to share their experiences with rare genetic neurological diseases in consanguineous families and/or populations. We encourage submissions from around the world and particularly from underrepresented regions.
In this Research Topic, we are going to address the roles of consanguinity in rare genetic neurological diseases. As their name implies, individual rare genetic diseases have low frequencies in the general population. When considered collectively, rare genetic diseases account for a substantial public health burden. Studying rare neurological genetic diseases has identified important genes and pathways essential for human health and implicated in the pathogenesis of rare diseases as well as multiple more common genetic and non-genetic neurological diseases.
The recent advances in sequencing and gene-editing technologies have revolutionized research on rare genetic diseases. The increasing availability of population-level and patient-level data facilitated the discovery of new disease-causing genes. Gene-editing technologies have been used extensively in validating the pathogenic effects of multiple genes and as effective tools for gene therapy. The recent drop in the costs of studying rare genetic diseases led to an increased representation of historically understudied populations in the scientific literature. This includes populations with very high rates of consanguineous marriages.
The present Research Topic aims to provide a platform for researchers to share their experiences with rare genetic neurological diseases in consanguineous families and/or populations. We encourage submissions from around the world and particularly from underrepresented regions.
Keywords: Genetic neurological diseases; monogenic; Mendelian; consanguinity; recessive; next-generation sequencing
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