About this Research Topic
Inborn errors of metabolism are a complex group of hereditary disorders with huge variability in clinical manifestations that usually occur during infancy and early childhood. In the era of the “omics' revolution, particularly genomics and metabolomics, we witnessed a number of new
disorders and new symptoms of existed diseases that have been identified during the past few years. These newly identified disorders and symptoms contributed tremendously to our understanding of the molecular and pathological mechanisms of disease and genotype-phenotype correlations, and uncover new targeted approaches for disease-specific therapeutic options. The goal of this Research Topic is to provide a comprehensive overview of new developments in genetic/genomic testing in inborn errors of metabolism as well as to elucidate the pathological mechanisms involved in the inherited metabolism disorders onset, progress, and phenotype heterogeneity. In addition, we aim to attract publications on finding innovative potential therapies to correct the biochemical and genetic defects in this group of disorders. We also invite experts all over the world to share their knowledge and experience by submitting up-to-date, cutting-edge reviews in this particular field. Potential areas of interest include, but are not limited to the following
topics:
1. Omics technological advances that can be applied to metabolic disorders diagnosis, new mechanism finding, and treatment development.
2. Analysis of genotype -phenotype correlations and ethnic heterogeneity for the mechanistic understanding of metabolic disorders.
3. Systematic approaches integrate multi-omics and database information into biological network approaches to investigate shared biological pathways, clinical signs and symptoms, and links to drug targets.
4. Functional characterization to determine the pathogenicity of newly identified mutations or variants of unknown significance.
5. Drug repositioning of metabolic disorders in the era of precision medicine
disorders and new symptoms of existed diseases that have been identified during the past few years. These newly identified disorders and symptoms contributed tremendously to our understanding of the molecular and pathological mechanisms of disease and genotype-phenotype correlations, and uncover new targeted approaches for disease-specific therapeutic options. The goal of this Research Topic is to provide a comprehensive overview of new developments in genetic/genomic testing in inborn errors of metabolism as well as to elucidate the pathological mechanisms involved in the inherited metabolism disorders onset, progress, and phenotype heterogeneity. In addition, we aim to attract publications on finding innovative potential therapies to correct the biochemical and genetic defects in this group of disorders. We also invite experts all over the world to share their knowledge and experience by submitting up-to-date, cutting-edge reviews in this particular field. Potential areas of interest include, but are not limited to the following
topics:
1. Omics technological advances that can be applied to metabolic disorders diagnosis, new mechanism finding, and treatment development.
2. Analysis of genotype -phenotype correlations and ethnic heterogeneity for the mechanistic understanding of metabolic disorders.
3. Systematic approaches integrate multi-omics and database information into biological network approaches to investigate shared biological pathways, clinical signs and symptoms, and links to drug targets.
4. Functional characterization to determine the pathogenicity of newly identified mutations or variants of unknown significance.
5. Drug repositioning of metabolic disorders in the era of precision medicine
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