Microcephaly: finding the genes

This research was completed on 27 January 2012

Published on 21 October 2008

What's the problem and who does it affect?

Too many unanswered questions

Babies with autosomal dominant microcephaly are born with small heads, because their brain has not grown to the normal size. Sadly, most go on to suffer mild learning disabilities, which limit their ability to participate in modern life. They may find it difficult to hold down a well paid job, to gain independence and to raise a family.

The condition is inherited, and has repercussions for the whole family. Unaffected relatives – often brothers or sisters – find they have a responsibility of care, with subsequent impact on their own lives.

There is no diagnostic test for autosomal dominant microcephaly, no cure and a dire lack of knowledge about what causes the condition. Doctors do not have the information they need to answer important questions, such as 'Why is my family affected by the condition?’. It can even be difficult to confirm for sure that a child has the illness and to predict how badly they will be affected as they grow and develop.

What is the project trying to achieve?

Looking for faulty genes

The researchers aim to find faulty genes that cause autosomal dominant microcephaly using sophisticated laboratory analyses of blood samples taken from patients and their families.

Preliminary studies in four affected families have already shown each family has mutations – or changes – in different genes, suggesting individual families may be affected in unique ways. In this study, the researchers aim to build on their earlier work, with help from around 20 more families.

Once the researchers have identified genes that are linked to microcephaly, they plan preliminary investigations of how the genes work in the brain and how they might cause the condition. Very little is known about this at the moment – brain scans show sufferers’ brains, though small in size, have a normal architecture.

What are the researchers' credentials?

The project team, headed by Dr Geoff Woods, is regarded as a world leader in research into primary microcephaly. The team includes clinicians with a thorough understanding of patients’ needs and scientists who are skilled in the very latest research techniques. They have an excellent track record and publish regularly in medical and scientific journals of the highest standard.

The team is based within the Cambridge Institute of Medical Research, a leading research institution, which has the ambitious objective of determining and understanding the molecular mechanisms of disease.

The research team is committed to finding better ways to help patients and their families. They have always found it easy to recruit affected families to their studies, which enables them to offer the results back to the people who need it most – families and individuals with microcephaly.

Who stands to benefit from this research and how?

Improving diagnosis and counselling

The researchers hope to identify genes that can cause autosomal dominant microcephaly. This would enable them to develop the first ever diagnostic tests for this poorly understood condition.

Families that carry these genes could be offered better counselling, so they can understand what is causing the condition and how it is inherited. It can be a huge relief to have this important information.

Further down the line, the results of this project could also help in the development of new treatments for autosomal dominant microcephaly.

Boosting fundamental understanding of the brain

 Researchers believe their work could also produce information of fundamental importance to our general understanding of the human brain. Our brain is our most defining feature as a species. Many genes are thought to be involved in its growth and development, but identifying genes with a crucial role has so far proved difficult. This research has the potential to identify some of those genes, which could eventually have major implications for the treatment of all sorts of neurological conditions.