Publication highlights

Researchers at the Francis Crick Institute, UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital for Children (GOSH) have designed a new genetic therapy that could alleviate debilitating giant moles in a rare skin condition. The researchers silenced a gene called NRAS, which is mutated in the mole cells, in cells in a dish and in mice. Silencing the gene triggered the mole cells to self-destruct. In the future, the treatment could potentially be used to reverse the giant moles, and therefore reduce the risk of affected children and adults from developing cancer. It could also potentially reverse other more common types of at-risk moles as an alternative to surgery.

A research team at the Francis Crick Institute and Great Ormond Street Hospital (GOSH)/UCL Great Ormond Street Institute of Child Health have identified new potential treatments for children with rare genetic conditions of blood vessels (Sturge-Weber syndrome and PPV-DM), which cause severe, lifelong, and disabling symptoms like seizures and impaired development. They found that 74% of children examined at GOSH had at least one abnormal measurement of calcium in the blood, and their calcium brain deposits were getting worse over time. The researchers then studied patient samples in the lab at the Crick, as well as blood vessel cells engineered with and without the mutations. This approach clarified exactly what was happening in the cells with the mutations, identifying that too much calcium was being released inside cells all the time. Stabilising calcium levels in the brain could therefore be a target for new treatments, to protect the brain from damage over time.