Researchers at the Sanger Institute and the University of Cambridge have used genetic sequencing to try and identify the cause of the hereditary condition Thrombocytopenia with Absent Radii (TAR). TAR occurs due to low levels of Y14 protein and through genomics have not only identified this protein but will hopefully be able to now pre-natal diagnose the condition, via screening.

The syndrome, particularly prominent with children, leads to a low platelet count reducing blood clotting.

People with the syndrome are also more inclined to bleeding and skeletal abnormalities within the arms.

Sometimes this can be in the form of a missing radius, which is one of the two bones in the forearm, or in a missing limb altogether.

After 50 years of research, the scientists have finally identified the cause of this disease as well as the genes that code for it.

It is only due to modern genomics that this research has been feasible.

40 million letters of genetic code from five individual patients with the condition were decoded, Dr Cornelis Albers explains.

Researchers have said this research is important not just for this disease but also other disorders that appear to have unrelated conditions such as blood and skeletal disorders.