Rare diseases (RDs) encompass more than 7000 described disorders characterized by a low prevalence in the general population. Collectively, these disorders affect between 6 to 8% of the world population, that is approximately 300-350 million people worldwide. The majority of RDs involve an underlying genetic component, and more than 6,000 conditions have been linked to a known molecular cause. In the last 13 years, the adoption of human genomic sequencing has enabled the more efficient and accurate diagnosis and research of rare genetic disorders. Genomic sequencing has become a first-tier diagnostic test for many patients with congenital syndromes and suspected genetic disorders in high-income countries, as well as an effective method for the study of undiagnosed and novel genetic disorders in the research arena.
The implementation of genomic sequencing has dramatically changed the diagnosis and research of rare diseases in high-income countries. In contrast, the reality in low- and middle-income countries (LMICs) is strikingly different, where disparities on accessibility to these technologies exist. The high cost of genomic sequencing and other molecular technologies remains a limiting factor in the common implementation of these methods for diagnosis and research of rare diseases in resource limited settings. The study of rare genetic diseases in LMICs may be underestimated when compared to large-scale genomic studies performed in developed countries despite being performed under much strained circumstances. Consequently, research publications on the genetics of RDs within LMICs might be underrepresented in the literature, limiting the understanding of genetic and phenotypic variability across populations and contributing to the lack of representation of non-European individuals in genetic studies. This Research Topic aims to provide an opportunity for researchers and clinicians from LMICs who are dedicated to the study of rare genetic disorders to share their findings with the global genetics scientific community, as well as their challenges and perspectives on the implementation of modern technologies and approaches for the diagnosis and study of rare genetic disorders.
This Research Topic will accept for submission: case, case series, and cohort reports of patients from LMICs with rare genetic disorders describing in detail the clinical presentation of the disorders, the process of studying and diagnosing the condition, especially in the context of LMICs, and the relevance of the study in the context of existing knowledge and literature. New methods or resources developed and available for the study of rare diseases, or genetic epidemiology studies, with an emphasis on LMICs are also of interest. Review or perspective articles on the study of rare genetic disorders in LMICs are also welcomed. Other themes and formats within the subject of RDs in LMICs can also be considered for inclusion as part of this Research Topic.
Please note: Case reports will only be accepted if they follow the guidelines set by Frontiers for this type of paper.
Rare diseases (RDs) encompass more than 7000 described disorders characterized by a low prevalence in the general population. Collectively, these disorders affect between 6 to 8% of the world population, that is approximately 300-350 million people worldwide. The majority of RDs involve an underlying genetic component, and more than 6,000 conditions have been linked to a known molecular cause. In the last 13 years, the adoption of human genomic sequencing has enabled the more efficient and accurate diagnosis and research of rare genetic disorders. Genomic sequencing has become a first-tier diagnostic test for many patients with congenital syndromes and suspected genetic disorders in high-income countries, as well as an effective method for the study of undiagnosed and novel genetic disorders in the research arena.
The implementation of genomic sequencing has dramatically changed the diagnosis and research of rare diseases in high-income countries. In contrast, the reality in low- and middle-income countries (LMICs) is strikingly different, where disparities on accessibility to these technologies exist. The high cost of genomic sequencing and other molecular technologies remains a limiting factor in the common implementation of these methods for diagnosis and research of rare diseases in resource limited settings. The study of rare genetic diseases in LMICs may be underestimated when compared to large-scale genomic studies performed in developed countries despite being performed under much strained circumstances. Consequently, research publications on the genetics of RDs within LMICs might be underrepresented in the literature, limiting the understanding of genetic and phenotypic variability across populations and contributing to the lack of representation of non-European individuals in genetic studies. This Research Topic aims to provide an opportunity for researchers and clinicians from LMICs who are dedicated to the study of rare genetic disorders to share their findings with the global genetics scientific community, as well as their challenges and perspectives on the implementation of modern technologies and approaches for the diagnosis and study of rare genetic disorders.
This Research Topic will accept for submission: case, case series, and cohort reports of patients from LMICs with rare genetic disorders describing in detail the clinical presentation of the disorders, the process of studying and diagnosing the condition, especially in the context of LMICs, and the relevance of the study in the context of existing knowledge and literature. New methods or resources developed and available for the study of rare diseases, or genetic epidemiology studies, with an emphasis on LMICs are also of interest. Review or perspective articles on the study of rare genetic disorders in LMICs are also welcomed. Other themes and formats within the subject of RDs in LMICs can also be considered for inclusion as part of this Research Topic.
Please note: Case reports will only be accepted if they follow the guidelines set by Frontiers for this type of paper.