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Researchers at the UK’s national synchrotron facility, Diamond Light Source (DLS), have published the 5,000th scientific paper using data generated there.

This milestone marks a significant step for the synchrotron that is used by over 8,000 scientists each year.

The 5,000th paper reveals the discovery of one of the genetic triggers behind a range of birth defects, including congenital heart disease.

Andrew Harrison, CEO at DLS, said: “Our 5,000th paper represents a significant milestone for the facility. As we move towards the tenth anniversary of Diamond in 2017, this work underscores the vital human impact that synchrotron research can have.

“If we can uncover more about the intricate processes at the heart of embryonic development, we may eventually be able to prevent some of the birth defects that can occur as a result. These findings are a tangible step forwards towards that goal.”

The new research reveals the genetic pathways by which proteins in the body help to align a developing embryo in the very early stages of development at just 19-22 days after conception.

The process of early-stage alignment has not been previously well-understood.

Rohanah Hussain, Senior Beamline Scientist on Diamond’s B23 beamline, where the work was carried out, said: “Now that we have identified the complex processes involved in embryonic alignment, we are better equipped to investigate exactly how and why things go wrong, and potentially develop ways of preventing these issues and the birth defects that result.

“There is still some way to go before we fully understand the delicate and highly intricate processes that govern embryonic alignment, but this work constitutes a major step forwards in efforts to understand developmental milestones that take place at a very early stage.”

This research has emerged from an international collaboration that has made it possible to combine genetics, biophysics and structural biology.