As a result of the wide availability of next-generation sequencing-based genetic testing (covering exome/genome), the number of new diagnoses of many rare diseases (RDs) is constantly growing. This is the case for inherited diseases resulting from defects in proteins glycosylation, including congenital disorders of glycosylation (CDGs), glycosylphosphatidylinositol (GPI)-anchored proteins defects (GPIBDs), and deglycosylation disorders (CDDGs). However, our clinical knowledge regarding the manifestation, natural history and treatment efficacy in this group of diseases is unfortunately still limited. This is due to several facts, e.g. the majority of the described patients are children, and therefore the manifestation in adulthood is not yet determined; there is no reliable genotype-phenotype correlation resulting in significant limitation in counseling regarding the prognosis. From the clinical genetics point of view, there is, therefore, a strong need to conduct new investigations and, particularly, disseminate knowledge about these disorders.
The goals of the proposed Research Topic are to increase our awareness and understanding regarding genetic diseases resulted from defects in proteins glycosylation. We aim to present a comprehensive picture of these disorders, including genetic background and clinical manifestation (optimally in terms of specific organs), underlying pathomechanisms and proposing potential treatments. An important goal is to try to create algorithms for clinical features as an essential tool for the interpretation of both NGS results and clinical picture, which, unfortunately, has been recently increasingly neglected by many physicians. We also encourage young scientists and researchers to share their research results, give scientific insights and present achievements.
We welcome Original Research, Review and Hypothesis articles covering the following aspects of Glycosylation defects diseases:
- Genetic background
- Pathological mechanisms
- Key clinical features
- Confirmatory diagnostics procedures
- Treatment options
- Follow-up recommendations
As a result of the wide availability of next-generation sequencing-based genetic testing (covering exome/genome), the number of new diagnoses of many rare diseases (RDs) is constantly growing. This is the case for inherited diseases resulting from defects in proteins glycosylation, including congenital disorders of glycosylation (CDGs), glycosylphosphatidylinositol (GPI)-anchored proteins defects (GPIBDs), and deglycosylation disorders (CDDGs). However, our clinical knowledge regarding the manifestation, natural history and treatment efficacy in this group of diseases is unfortunately still limited. This is due to several facts, e.g. the majority of the described patients are children, and therefore the manifestation in adulthood is not yet determined; there is no reliable genotype-phenotype correlation resulting in significant limitation in counseling regarding the prognosis. From the clinical genetics point of view, there is, therefore, a strong need to conduct new investigations and, particularly, disseminate knowledge about these disorders.
The goals of the proposed Research Topic are to increase our awareness and understanding regarding genetic diseases resulted from defects in proteins glycosylation. We aim to present a comprehensive picture of these disorders, including genetic background and clinical manifestation (optimally in terms of specific organs), underlying pathomechanisms and proposing potential treatments. An important goal is to try to create algorithms for clinical features as an essential tool for the interpretation of both NGS results and clinical picture, which, unfortunately, has been recently increasingly neglected by many physicians. We also encourage young scientists and researchers to share their research results, give scientific insights and present achievements.
We welcome Original Research, Review and Hypothesis articles covering the following aspects of Glycosylation defects diseases:
- Genetic background
- Pathological mechanisms
- Key clinical features
- Confirmatory diagnostics procedures
- Treatment options
- Follow-up recommendations
