About this Study

Genetic conditions have a major impact on lives

Each year almost 8 million children, about 6% of births worldwide, are born with a serious birth defect of genetic origin. Although most individual genetic conditions are rare, collectively they are common and have a significant impact on human health. Approximately 6,000 different genetic conditions have been identified. For over half of these conditions, the genetic cause remains unknown.

When a condition has a genetic basis, this can result in more than one individual in a family being affected. If the cause of this is unknown, or an accurate diagnosis cannot be made, families can feel a great deal of frustration and distress.

Understanding what causes a genetic condition helps us to understand how they occur, how they are best treated, and in some cases, how they might be prevented. If we know the gene that causes a rare condition, we can use this information to design a genetic test. Other people in the family can then use this to better understand their own risk.

Ultimately, with a deeper knowledge of genetic conditions, we are more equipped to provide families with the information and support they require.

This study aims to understand the cause for some of these genetic conditions using a new sophisticated genetic technology called ‘SNP microarray’. Such technology compares the genetic material (DNA) between individuals in a family, both affected and unaffected with the particular condition. Utilising this research allows us to expand our current clinical services to facilitate quicker diagnosis and more extensive genetic counselling for individuals with rare genetic conditions and their families.

We will be investigating genetic conditions that fall into a number of different categories. Some of the focuses within this project are:

• Genetics of Brain Development
• Genetics of Familial Cancers
• Genetics of Bone Disorders
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