Great Ormond Street shares ‘exciting’ update on Smiles-sponsored research into brain birth defect

Smiles With Grace has received an exciting update from researchers looking into the brain defect encephalocele.

Professor Andy Copp at the Institute of Children’s Health and Dominic Thompson, Grace’s Neurosurgeon at Great Ormond Street Hospital (GOSH), say research into the defect is “progressing well” and that there is preliminary evidence that a structural issue in the very early embryo may be to blame for newborns having the rare defect.

Smiles With Grace is sponsoring GOSH’s research: Encephalocele: a combined experimental and clinical study of its development and prevention’.

Encephalocele is a serious neural tube defect in which part of the brain develops outside the skull, and often becomes damaged, which can lead to disability or death.
 
Neural tube defects affect around one in every 1,000 UK pregnancies. A tenth of those turn out to be encephalocele.

The research aims to investigate the causes of the defect, “in order to pave the way towards future introduction of fetal surgery for encephalocele in the coming years”.

You can read the update from Professor Andy Copp and Dominic Thompson in full below:

“We are progressing well with the research into the brain birth defect encephalocele. After our recent publication on the cases at Great Ormond Street (Vakharia et al, 2023), we are now focusing on understanding how the abnormality arises in the embryo.

“We have exciting preliminary evidence that the brain of the very early embryo lacks a key structure that might be responsible for the later encephalocele defect. This is a small but vital part of the brain called the ‘subcommissural organ’ (SCO) which is responsible for secreting substances into the brain. We know it is important in the related condition, hydrocephalus, but no-one has previously found evidence linking it to encephalocele.

“In the coming months we will investigate this in more detail and determine whether this early finding can be substantiated. If so, we may be in a position to move forward very significantly in understanding how encephalocele comes about before birth.“