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Advances in Engineering the Fly Genome with the CRISPR-Cas System.

October 3, 2018 dna 0
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Advances in Engineering the Fly Genome with the CRISPR-Cas System.

Genetics. 2018 01;208(1):1-18

Authors: Bier E, Harrison MM, O’Connor-Giles KM, Wildonger J

Abstract
Drosophila has long been a premier model for the development and application of cutting-edge genetic approaches. The CRISPR-Cas system now adds the ability to manipulate the genome with ease and precision, providing a rich toolbox to interrogate relationships between genotype and phenotype, to delineate and visualize how the genome is organized, to illuminate and manipulate RNA, and to pioneer new gene drive technologies. Myriad transformative approaches have already originated from the CRISPR-Cas system, which will likely continue to spark the creation of tools with diverse applications. Here, we provide an overview of how CRISPR-Cas gene editing has revolutionized genetic analysis in Drosophila and highlight key areas for future advances.

PMID: 29301946 [PubMed – indexed for MEDLINE]

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Highlights from the 2018 WIN Symposium, 25-26 June 2018, Paris: designing the future of precision oncology.

October 1, 2018 dna 0
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Highlights from the 2018 WIN Symposium, 25-26 June 2018, Paris: designing the future of precision oncology.

Ecancermedicalscience. 2018;12:871

Authors: Davies W

Abstract
The Worldwide Innovative Networking (WIN) Symposium is the annual gathering of WIN consortium members from across the globe, representing academic institutions, pharmaceutical partners, technology companies and charitable organisations, to discuss ongoing research and the latest developments in precision oncology. The symposium held in Paris, France on 25-26 June was structured into five plenary sessions, two open forums and poster presentations. This year marked the 10th anniversary of the consortium, and the programme anchored itself with retrospectives of recent breakthroughs in personalised medicine, programme sessions reviewing the iterative design of trials in precision oncology at present, and the future of implementing personalised medicine initiatives in US and EU healthcare systems for the maximum patient benefit. This year was also marked by the absence of Dr John Mendelsohn, who has stepped down as chairman, and co-founder Professor Tomas Tursz, who passed away in April this year. The latter was given a brief memorial session at the conclusion of the symposium.

PMID: 30263062 [PubMed]

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Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

October 1, 2018 dna 0
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Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

BMC Med Ethics. 2018 Sep 29;19(1):81

Authors: Hurlimann T, Jaitovich Groisman I, Godard B

Abstract
BACKGROUND: The use of Next Generation Sequencing such as Whole Genome Sequencing (WGS) is a promising step towards a better understanding and treatment of neurological diseases. WGS can result into unexpected information (incidental findings, IFs), and information with uncertain clinical significance. In the context of a Genome Canada project on ‘Personalized Medicine in the Treatment of Epilepsy’, we intended to address these challenges surveying neurologists’ opinions about the type of results that should be returned, and their professional responsibility toward recontacting patients regarding new discovered mutations.
METHODS: Potential participants were contacted through professional organizations or direct invitations.
RESULTS: A total of 204 neurologists were recruited. Fifty nine percent indicated that to be conveyed, WGS results should have a demonstrated clinical utility for diagnosis, prognosis or treatment. Yet, 41% deemed appropriate to return results without clinical utility, when they could impact patients’ reproductive decisions, or on patients’ request. Current use of targeted genetic testing and age of patients influenced respondents’ answers. Respondents stated that analysis of genomics data resulting from WGS should be limited to the genes likely to be relevant for the patient’s specific medical condition (69%), so as to limit IFs. Respondents felt responsible to recontact patients and inform them about newly discovered mutations related to the medical condition that triggered the test (75%) for as long as they are following up on the patient (55%). Finally, 53.5% of the respondents felt responsible to recontact and inform patients of clinically significant, newly discovered IFs.
CONCLUSION: Our results show the importance of formulating professional guidelines sensitive to the various – and sometimes opposite – viewpoints that may prevail within a same community of practice, as well as flexible so as to be attuned to the characteristics of the neurological conditions that triggered a WGS.

PMID: 30268121 [PubMed – in process]

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Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

October 1, 2018 dna 0
Icon for BioMed Central Related Articles

Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

BMC Med Ethics. 2018 Sep 29;19(1):81

Authors: Hurlimann T, Jaitovich Groisman I, Godard B

Abstract
BACKGROUND: The use of Next Generation Sequencing such as Whole Genome Sequencing (WGS) is a promising step towards a better understanding and treatment of neurological diseases. WGS can result into unexpected information (incidental findings, IFs), and information with uncertain clinical significance. In the context of a Genome Canada project on ‘Personalized Medicine in the Treatment of Epilepsy’, we intended to address these challenges surveying neurologists’ opinions about the type of results that should be returned, and their professional responsibility toward recontacting patients regarding new discovered mutations.
METHODS: Potential participants were contacted through professional organizations or direct invitations.
RESULTS: A total of 204 neurologists were recruited. Fifty nine percent indicated that to be conveyed, WGS results should have a demonstrated clinical utility for diagnosis, prognosis or treatment. Yet, 41% deemed appropriate to return results without clinical utility, when they could impact patients’ reproductive decisions, or on patients’ request. Current use of targeted genetic testing and age of patients influenced respondents’ answers. Respondents stated that analysis of genomics data resulting from WGS should be limited to the genes likely to be relevant for the patient’s specific medical condition (69%), so as to limit IFs. Respondents felt responsible to recontact patients and inform them about newly discovered mutations related to the medical condition that triggered the test (75%) for as long as they are following up on the patient (55%). Finally, 53.5% of the respondents felt responsible to recontact and inform patients of clinically significant, newly discovered IFs.
CONCLUSION: Our results show the importance of formulating professional guidelines sensitive to the various – and sometimes opposite – viewpoints that may prevail within a same community of practice, as well as flexible so as to be attuned to the characteristics of the neurological conditions that triggered a WGS.

PMID: 30268121 [PubMed – in process]