Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare disorder that arises as a result of a somatic mosaic mutation in the PIK3CA gene. It characteristically presents with ...

Despite their immense potential, gene and cell therapies that target rare diseases are at risk of market withdrawal, owing to several challenges. The authors describe these hurdles and call for ...

RNAi (RNA interference) is a biological process in which RNA molecules—microRNA (miRNA) and small interfering RNA (siRNA)—inhibit gene expression, typically by binding to messenger RNA (mRNA ...

I joined the University of Sheffield as the Professor of Radiology in 1996 having held the position of Consultant Neuroradiologist at Addenbrooke’s Hospital, Cambridge since 1995. I administer three ...

Brain development involves the sequential expression of vulnerable biological processes including cell proliferation, programmed cell death, neuronal migration, synapse and functional unit formation.