Down syndrome (DS) is caused by a trisomic imbalance of human chromosome 21 and has been associated with 80+ phenotypic traits. Research advances have provided insight about the complexity of the genetic/epigenetic alterations underlying the physiological and development outcomes associated with DS. These changes reflect direct effects arising from triplosensitivity of genes on chromosome 21, as well as “cross talking” with genes on other chromosomes, including those involved with epigenetic regulation. Allelic polymorphisms of genes have also shown contributions to the complicated and variable manifestation of specific phenotypic traits associated with DS. The cumulative results of studies completed with participants from the DS community, as well as animal and induced pluripotent stem cell (iPSC) model systems, have offered opportunities to unravel the causes and consequences of a trisomy 21 gene dosage imbalance and have provided clues for designing future therapeutic strategies for DS.
The specific goal of this special issue is to highlight contemporary developments and challenges in the field of Trisomy 21 research. With the advancement of technology for analysing genomics, epigenomics, transcriptomics, proteomics and metabolomics, researchers have scope to get more insight into the complicated etiology of different congenital health conditions in DS. The specific aims of this volume include understanding the effects of:
1. Gene dosage on the manifestation of various congenital health issues.
2. Altered gene expression and epigenetic change on the phenotypic variations among people with DS.
3. Genotype-phenotype correlations through clinical and preclinical research.
4. Gene regulatory networks and genetic cross talking underlying specific molecular events associated with phenotypic traits and identifying therapeutic targets.
Any topic related to genetic, epigenetic and molecular analyses of phenotypes related to DS would be relevant for inclusion in this issue. Potential topics area include, but not limited to:
1. Genetic polymorphisms associated with phenotypic variations in DS.
2. Genetic and molecular analyses of the multi-faceted congenital health issues based on studies in humans, as well as in model organisms.
3. Disease modelling using iPSC.
4. Genetics and epigenetics of early aging-related phenotypes, including Alzheimer-like dementia in DS.
5. Specific therapeutic approaches for correcting dysregulated gene dosage in DS.
6. Genetics and epigenetics of mtDNA impacting oxidative stress physiology in DS
Down syndrome (DS) is caused by a trisomic imbalance of human chromosome 21 and has been associated with 80+ phenotypic traits. Research advances have provided insight about the complexity of the genetic/epigenetic alterations underlying the physiological and development outcomes associated with DS. These changes reflect direct effects arising from triplosensitivity of genes on chromosome 21, as well as “cross talking” with genes on other chromosomes, including those involved with epigenetic regulation. Allelic polymorphisms of genes have also shown contributions to the complicated and variable manifestation of specific phenotypic traits associated with DS. The cumulative results of studies completed with participants from the DS community, as well as animal and induced pluripotent stem cell (iPSC) model systems, have offered opportunities to unravel the causes and consequences of a trisomy 21 gene dosage imbalance and have provided clues for designing future therapeutic strategies for DS.
The specific goal of this special issue is to highlight contemporary developments and challenges in the field of Trisomy 21 research. With the advancement of technology for analysing genomics, epigenomics, transcriptomics, proteomics and metabolomics, researchers have scope to get more insight into the complicated etiology of different congenital health conditions in DS. The specific aims of this volume include understanding the effects of:
1. Gene dosage on the manifestation of various congenital health issues.
2. Altered gene expression and epigenetic change on the phenotypic variations among people with DS.
3. Genotype-phenotype correlations through clinical and preclinical research.
4. Gene regulatory networks and genetic cross talking underlying specific molecular events associated with phenotypic traits and identifying therapeutic targets.
Any topic related to genetic, epigenetic and molecular analyses of phenotypes related to DS would be relevant for inclusion in this issue. Potential topics area include, but not limited to:
1. Genetic polymorphisms associated with phenotypic variations in DS.
2. Genetic and molecular analyses of the multi-faceted congenital health issues based on studies in humans, as well as in model organisms.
3. Disease modelling using iPSC.
4. Genetics and epigenetics of early aging-related phenotypes, including Alzheimer-like dementia in DS.
5. Specific therapeutic approaches for correcting dysregulated gene dosage in DS.
6. Genetics and epigenetics of mtDNA impacting oxidative stress physiology in DS
