Bio-collections in autism research
Abstract Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic basis for ASD, critically supported through the establishment of ASD b...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-07-01
|
| Series: | Molecular Autism |
| Online Access: | http://link.springer.com/article/10.1186/s13229-017-0154-8 |
| _version_ | 1811214375068893184 |
|---|---|
| author | Jamie Reilly Louise Gallagher June L. Chen Geraldine Leader Sanbing Shen |
| author_facet | Jamie Reilly Louise Gallagher June L. Chen Geraldine Leader Sanbing Shen |
| author_sort | Jamie Reilly |
| collection | DOAJ |
| description | Abstract Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic basis for ASD, critically supported through the establishment of ASD bio-collections and application in research. Here, we summarise a selection of major ASD bio-collections and their associated findings. Collectively, these include mapping ASD candidate genes, assessing the nature and frequency of gene mutations and their association with ASD clinical subgroups, insights into related molecular pathways such as the synapses, chromatin remodelling, transcription and ASD-related brain regions. We also briefly review emerging studies on the use of induced pluripotent stem cells (iPSCs) to potentially model ASD in culture. These provide deeper insight into ASD progression during development and could generate human cell models for drug screening. Finally, we provide perspectives concerning the utilities of ASD bio-collections and limitations, and highlight considerations in setting up a new bio-collection for ASD research. |
| first_indexed | 2024-04-12T06:03:22Z |
| format | Article |
| id | doaj.art-07296506818744e6a4e17bd17bb8072b |
| institution | Directory Open Access Journal |
| issn | 2040-2392 |
| language | English |
| last_indexed | 2024-04-12T06:03:22Z |
| publishDate | 2017-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Autism |
| spelling | doaj.art-07296506818744e6a4e17bd17bb8072b2022-12-22T03:44:58ZengBMCMolecular Autism2040-23922017-07-018113610.1186/s13229-017-0154-8Bio-collections in autism researchJamie Reilly0Louise Gallagher1June L. Chen2Geraldine Leader3Sanbing Shen4Regenerative Medicine Institute, School of Medicine, BioMedical Sciences Building, National University of Ireland (NUI)Trinity Translational Medicine Institute and Department of Psychiatry, Trinity Centre for Health SciencesDepartment of Special Education, Faculty of Education, East China Normal UniversityIrish Centre for Autism and Neurodevelopmental Research (ICAN), Department of Psychology, National University of Ireland GalwayRegenerative Medicine Institute, School of Medicine, BioMedical Sciences Building, National University of Ireland (NUI)Abstract Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic basis for ASD, critically supported through the establishment of ASD bio-collections and application in research. Here, we summarise a selection of major ASD bio-collections and their associated findings. Collectively, these include mapping ASD candidate genes, assessing the nature and frequency of gene mutations and their association with ASD clinical subgroups, insights into related molecular pathways such as the synapses, chromatin remodelling, transcription and ASD-related brain regions. We also briefly review emerging studies on the use of induced pluripotent stem cells (iPSCs) to potentially model ASD in culture. These provide deeper insight into ASD progression during development and could generate human cell models for drug screening. Finally, we provide perspectives concerning the utilities of ASD bio-collections and limitations, and highlight considerations in setting up a new bio-collection for ASD research.http://link.springer.com/article/10.1186/s13229-017-0154-8 |
| spellingShingle | Jamie Reilly Louise Gallagher June L. Chen Geraldine Leader Sanbing Shen Bio-collections in autism research Molecular Autism |
| title | Bio-collections in autism research |
| title_full | Bio-collections in autism research |
| title_fullStr | Bio-collections in autism research |
| title_full_unstemmed | Bio-collections in autism research |
| title_short | Bio-collections in autism research |
| title_sort | bio collections in autism research |
| url | http://link.springer.com/article/10.1186/s13229-017-0154-8 |
| work_keys_str_mv | AT jamiereilly biocollectionsinautismresearch AT louisegallagher biocollectionsinautismresearch AT junelchen biocollectionsinautismresearch AT geraldineleader biocollectionsinautismresearch AT sanbingshen biocollectionsinautismresearch |