Europe’s first research centre to tackle birth defects

The centre piece of the BDRC, based at the UCL Institute of Child Health (ICH), is a newly built £6.5 million laboratory and office space dedicated to researching the causes of birth defects, advancing their diagnosis and treatment and preventing such conditions in the future. The BDRC build was funded through generous donations to Great Ormond Street Hospital Children’s Charity, as part of their Bringing Research to Life campaign.

Birth defects are a leading cause of infant mortality in the Western world. In Europe, more than two per cent of pregnancies are affected by a birth defect, of which there are more than 4,000 types. Infants born with a birth defect have a 15-fold increased risk of death in their first year, with one in ten dying during this period. Those who live beyond one year of age are often destined for a life-time of ill-health and are likely to need ongoing medical or surgical support.

Some of the most common birth defects include neural tube defects such as spina bifida, congenital heart defects, inherited vision disorders, cleft lip and palate and Down’s syndrome. These are some of the conditions which will be under investigation at the new centre, with vital input from the ICH’s clinical partner, Great Ormond Street Hospital for Children NHS Foundation Trust which specialises in the treatment of rare disorders.

The new centre will house three specialist teams, in state-of-the-art-laboratories with the latest equipment. Across the spectrum of research, the teams will investigate:

• how the brain and spinal cord grow, and therapies to prevent neural tube defects - this includes an ongoing clinical trial to establish the effectiveness of a vitamin supplement to protect unborn babies against spina bifida;

• the processes behind nerve growth in the gut, and potential stem cell therapies to repair damaged or absent nerves;

• stem cell markers to improve the diagnosis of epilepsy and brain tumours at an earlier stage;

• disorders affecting the growth of the skull, to help find new treatments for conditions such as cleft lip and palate;

• new pathways to stimulate the growth and repair of heart tissue;

• ways of introducing stem cells into the eye to regenerate light-sensitive cells in blindness;

• the genetic origins of birth defects, particularly for families with rare genetic disorders.

Professor Andrew Copp, Head of the Newlife Birth Defects Research Centre and one of the scientific investigators at the new centre, says: “When a baby is born with a serious birth defect, it can completely change a family’s life. Some children require surgery in the first few weeks of life. Even if the operation is successful, the child usually needs further medical and surgical treatments throughout his or her life.

“We are able to prevent only a very small number of birth defects. We remain ignorant of what actually causes common birth defects such as cleft palate, heart defects and spina bifida. A huge amount of research needs to be done. The Newlife Birth Defects Research Centre will be the first research grouping to focus specifically on understanding how birth defects arise, and finding new ways to treat and prevent them.”