Capacity Building for Rare Genomics
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Infrequent occurrence of rare diseases (RD) has led to prolonged time needed to make an accurate diagnosis. Research and
development of new treatments has been insufficient due to the
narrow market for affected patients. Fascinating progress and accumulation of knowledge in the field of genomics provided for
improvement of diagnosis and follow-up of numerous RD. It also
led to the design of molecular-targeted therapeutics and more effective treatment of RD.
Building up a centre for genomics of rare diseases comprises
strengthening of several components in an institution already involved in molecular genetics and biomedical research, such as, infrastructure, human resources, local and international networking
and dissemination and outreach activities.
Regarding infrastructure, facilities for Next-generation sequencing (NGS) and array-based comparative genomic hybridization (aCGH) are necessary to perform high-throughput genomewide screening. Establishment of the bioinformatics u...nit is also
very important. At the heart of genomics of RD is biological samples storage and database facilities. Biobanks are a critical resource
in the field of genomics of RD. Additionally, strong connections
with local medical institutions have to be made.
Reinforcement of human potential, especially through recruitment of experts in bioinformatics, is indispensable contribution
to the implementation of new equipment and high-throughput
methodologies. Trainings of researchers are continually in focus
of an expert centre for genomics of RD.
Integration of the centre into European networks in order to
intensify the transfer of knowledge is one of the cornerstones for
its capacity building. The data a nd biospecimens that are distributed to all researchers, are absolute requirements in the pathway to
develop modern science, diagnosis and cures for RD.
Finally, dissemination and outreach activities are needed to
ensure increased visibility of the centre within local and international scientific community and stakeholders and social entities
interested in exploiting the results of the centre.
Извор:
Public Health Genomics, 2018, 21, 7-7Издавач:
- Karger, Basel
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Pavlović, Sonja PY - 2018 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1105 AB - Infrequent occurrence of rare diseases (RD) has led to prolonged time needed to make an accurate diagnosis. Research and development of new treatments has been insufficient due to the narrow market for affected patients. Fascinating progress and accumulation of knowledge in the field of genomics provided for improvement of diagnosis and follow-up of numerous RD. It also led to the design of molecular-targeted therapeutics and more effective treatment of RD. Building up a centre for genomics of rare diseases comprises strengthening of several components in an institution already involved in molecular genetics and biomedical research, such as, infrastructure, human resources, local and international networking and dissemination and outreach activities. Regarding infrastructure, facilities for Next-generation sequencing (NGS) and array-based comparative genomic hybridization (aCGH) are necessary to perform high-throughput genomewide screening. Establishment of the bioinformatics unit is also very important. At the heart of genomics of RD is biological samples storage and database facilities. Biobanks are a critical resource in the field of genomics of RD. Additionally, strong connections with local medical institutions have to be made. Reinforcement of human potential, especially through recruitment of experts in bioinformatics, is indispensable contribution to the implementation of new equipment and high-throughput methodologies. Trainings of researchers are continually in focus of an expert centre for genomics of RD. Integration of the centre into European networks in order to intensify the transfer of knowledge is one of the cornerstones for its capacity building. The data a nd biospecimens that are distributed to all researchers, are absolute requirements in the pathway to develop modern science, diagnosis and cures for RD. Finally, dissemination and outreach activities are needed to ensure increased visibility of the centre within local and international scientific community and stakeholders and social entities interested in exploiting the results of the centre. PB - Karger, Basel C3 - Public Health Genomics T1 - Capacity Building for Rare Genomics EP - 7 SP - 7 VL - 21 UR - https://hdl.handle.net/21.15107/rcub_imagine_1105 ER -
@conference{ author = "Pavlović, Sonja", year = "2018", abstract = "Infrequent occurrence of rare diseases (RD) has led to prolonged time needed to make an accurate diagnosis. Research and development of new treatments has been insufficient due to the narrow market for affected patients. Fascinating progress and accumulation of knowledge in the field of genomics provided for improvement of diagnosis and follow-up of numerous RD. It also led to the design of molecular-targeted therapeutics and more effective treatment of RD. Building up a centre for genomics of rare diseases comprises strengthening of several components in an institution already involved in molecular genetics and biomedical research, such as, infrastructure, human resources, local and international networking and dissemination and outreach activities. Regarding infrastructure, facilities for Next-generation sequencing (NGS) and array-based comparative genomic hybridization (aCGH) are necessary to perform high-throughput genomewide screening. Establishment of the bioinformatics unit is also very important. At the heart of genomics of RD is biological samples storage and database facilities. Biobanks are a critical resource in the field of genomics of RD. Additionally, strong connections with local medical institutions have to be made. Reinforcement of human potential, especially through recruitment of experts in bioinformatics, is indispensable contribution to the implementation of new equipment and high-throughput methodologies. Trainings of researchers are continually in focus of an expert centre for genomics of RD. Integration of the centre into European networks in order to intensify the transfer of knowledge is one of the cornerstones for its capacity building. The data a nd biospecimens that are distributed to all researchers, are absolute requirements in the pathway to develop modern science, diagnosis and cures for RD. Finally, dissemination and outreach activities are needed to ensure increased visibility of the centre within local and international scientific community and stakeholders and social entities interested in exploiting the results of the centre.", publisher = "Karger, Basel", journal = "Public Health Genomics", title = "Capacity Building for Rare Genomics", pages = "7-7", volume = "21", url = "https://hdl.handle.net/21.15107/rcub_imagine_1105" }
Pavlović, S.. (2018). Capacity Building for Rare Genomics. in Public Health Genomics Karger, Basel., 21, 7-7. https://hdl.handle.net/21.15107/rcub_imagine_1105
Pavlović S. Capacity Building for Rare Genomics. in Public Health Genomics. 2018;21:7-7. https://hdl.handle.net/21.15107/rcub_imagine_1105 .
Pavlović, Sonja, "Capacity Building for Rare Genomics" in Public Health Genomics, 21 (2018):7-7, https://hdl.handle.net/21.15107/rcub_imagine_1105 .