Microcephaly: finding the genes | Children's Charity

Microcephaly: finding the genes

First published on 21 October 2008

Updated on 29 April 2014

What did the project achieve?

“We have boosted understanding of what causes an inherited condition called autosomal dominant microcephaly,” says Professor Geoff Woods of the University of Cambridge.

Babies and children with this condition have unusually small heads. Most go on to have mild learning disabilities throughout their lives, limiting their independence.

“We set out to identify genes for autosomal dominant microcephaly and work out what they do,” says Professor Woods. “We identified two genes that seem important. Our findings suggest these genes influence the way brain cells divide during growth and development. We also found that two of the seven families we were studying had another recently identified gene.”

“Our work could aid diagnosis of autosomal dominant microcephaly via the development of new genetic tests for the condition,” says Professor Woods. “Families could then receive better counselling, to improve their understanding of why they’re affected and how the condition is inherited. This information can bring great relief to families. One day, our work might also lead to new treatments.”

This research was completed on 31 December 2012

Babies with a condition called autosomal dominant microcephaly, which runs in families, are born with small heads. Most go on to have mild learning disabilities throughout their lives, limiting their independence. There is no diagnostic test and no cure. Researchers are looking for genetic causes, with the ultimate aim of improving diagnosis and determining if any new treatments might be possible.

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?

Project LeaderDr C G Woods MB ChB, MD, FRCP
LocationDepartment of Medical Genetics, Cambridge Institute of Medical Research, Addenbrookes Hospital, Cambridge.
Duration3 years
Grant awarded21 July 2008
Start date1 September 2008
End date31 December 2012
Grant amount£139,871.00
Grant codeSP4314, GN1729

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.

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.

Help us spread the word