A new genetic disease that affects the size of our brains and causes severe developmental problems has been identified by an international collaboration led by scientists and doctors from the UK, Netherlands and the USA.
Whilst working on another project, Dr Siddharth Banka noticed that three children with large or small brains and delayed development each had mutations in the RAC1 gene. The gene had never previously been linked to human disease, and mutations in no other single gene have previously shown this extent of variability in brain size. Four more children were found in the Netherlands with mutations in the same gene and altered brain-sizes. Some of the affected children were also found to have epilepsy and heart defects. It it thought that the discovery will lead to the identification of further undiagnosed patients.
Dr Banka said:
Evolution has tinkered with thousands of genes over millions of years, to shape the human brain, an organ that is remarkably consistent in its appearance and size across billions of people. However, occasionally a tiny little alteration in just one of these thousands of genes can have devastating effects, reflecting the fine balance of this complex genetic orchestra