Professor Henry Houlden is studying the effect of genetic faults on the brain’s growth and development, which could lead to a simple test for these disorders and help families to get the support or treatment their child needs more quickly.
Why this research is vital
Disorders affecting brain growth and development – known as neurodevelopmental disorders (NDDS) – affect around 3-4% of children in the UK. These include intellectual disabilities, developmental delay and autism.
Children often have more than one of these conditions and many have additional debilitating conditions, such as epilepsy. These conditions typically present in early childhood and may lead to difficulties with emotional, social and intellectual skills. They can also cause behavioural disorders, speech or language difficulties, seizures and problems with movement. Many of these children require lifelong support, which in turn has a huge impact on their families.
There is growing evidence that disorders affecting the growth and development of a child’s brain may have a genetic cause. Professor Henry Houlden and his team have identified a specific mistake – present in the DNA of many children with intellectual disabilities, developmental delay, autism and epilepsy – that may play a role in causing their conditions.
This could provide an opportunity to improve the diagnosis of disorders and improve understanding of how best to treat them or support families.
The team will study cells from animals and patients, to better understand how the genetic faults effect the brain’s growth and development. Cells taken from patients will be modified in the lab using state-of-the-art techniques, reprogramming them to become nerve cells identical to those found in the brains of patients. This will allow the team to study the cells without requiring patients to undergo a brain biopsy.
Impact of this project
This work could generate a simple genetic test for these disorders, allowing clinicians to give children and their families a diagnosis more quickly and easily. This could help families to get the support or treatment the child needs as soon as possible.
The study will also provide important knowledge on the cause and progression of autism spectrum disorders, epilepsy and other disorders affecting brain development. The cells grown and studied as part of this work could provide a vital resource for testing new treatments in the future.
This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through their national research funding call.