Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

In 2002 Sir John Sulston shared the Nobel Prize for Physiology or Medicine for his contribution to understanding the genetic control of cell fate during the development of the roundworm Caenorhabditis elegans . However, it was his position as one of the leaders of the international and publicly funded Human Genome Project that brought him to public prominence. Both his work on the worm cell lineage and his later commitment to genome sequencing as founding director of the Wellcome Trust Sanger Institute stemmed from his conviction that investing in large-scale data collection would have long-term benefits for future scientific discovery. He was a key figure in promoting the principle, now widely accepted, that genomic data should be universally and freely shared. After retiring from his post at the Sanger Institute he engaged with organizations with interests in biomedical ethics and global equality. He was a loyal and supportive colleague to many, delighting in the international collegiality of the ‘worm community’, of which he was a founding member.

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Embedding gender equality into institutional strategy

Global Health Epidemiology and Genomics ◽

10.1017/gheg.2017.5 ◽

2017 ◽

Vol 2 ◽

Cited By ~ 2

Author(s):

S. Ahmed

Keyword(s):

Gender Inequality ◽

Cultural Change ◽

Wellcome Trust Sanger Institute ◽

Women In Science ◽

International Level ◽

Sanger Institute ◽

Institutional Strategy ◽

Future Direction ◽

The Many ◽

Key Participants

The SiS (Sex in Science) Programme on the WGC (Wellcome Genome Campus) was established in 2011. Key participants include the Wellcome Trust Sanger Institute, EMB-EBI (EMBL-European Bioinformatics Institute), Open Targets and Elixir. The key objectives are to catalyse cultural change, develop partnerships, communicate activities and champion our women in science work at a national and international level (http://www.sanger.ac.uk/about/sex-science). In this paper, we highlight some of the many initiatives that have taken place since 2013, to address gender inequality at the highest levels; the challenges we have faced and how we have overcome these, and the future direction of travel.

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The Sanger Institute mouse genetics programme: progress on the high throughput characterisation of knockout mice

Acta Ophthalmologica ◽

10.1111/j.1755-3768.2009.4141.x ◽

2009 ◽

Vol 87 ◽

pp. 0-0 ◽

Cited By ~ 1

Author(s):

AK GERDIN

Keyword(s):

High Throughput ◽

Knockout Mice ◽

Mouse Genetics ◽

Sanger Institute

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Genetic Modifiers of Thrombosis in Mice.

Blood ◽

10.1182/blood.v114.22.sci-44.sci-44 ◽

2009 ◽

Vol 114 (22) ◽

pp. SCI-44-SCI-44

Author(s):

David Ginsburg

Keyword(s):

Large Scale ◽

Genetic Factors ◽

Conflicts Of Interest ◽

Factor V Leiden ◽

Mouse Genetics ◽

Von Willebrand Disease ◽

Modifier Genes ◽

Factor V ◽

Genetic Modifiers ◽

Von Willebrand

Abstract Abstract SCI-44 The genetic factors responsible for the highly variable clinical course of inherited bleeding disorders including von Willebrand disease and hemophilia are largely unknown. Similar factors are also likely to contribute to the variability of common thrombotic disorders, including factor V Leiden. Studies by our lab over the past 10 years have used the power of mouse genetics to identify genes contributing to this variability (referred to as ‘modifier‘ genes). By performing genetic crosses between inbred strains of mice with elevated plasma levels of von Willebrand Factor (VWF) and other strains with low levels, we have mapped a total of 6 genetic factors contributing to the control of murine plasma VWF levels. Similar studies in ADAMTS13-deficient mice are in progress aimed at characterizing genes modifying susceptibility thrombotic thrombocytopenic purpura. We have also conducted large scale mutagenesis studies in the mouse in an effort to identify larger numbers of genes contributing to thrombosis risk in the setting of Factor V Leiden, and most recently are extending this approach to similar genetic screens in zebrafish. Finally, recent advances in human genetics are expanding the potential opportunities for directly identifying bleeding and thrombosis modifier genes in humans. Disclosures No relevant conflicts of interest to declare.

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