The Science

Despite the human genome being sequenced at the dawn of this century, the families in Without a Diagnosis don’t have an answer as to what is causing their child’s disabilities. This is because although scientific technology is rapidly improving- genetic research techniques are not always widely available on the NHS, and do not always hold all the answers.

In the documentary, I visited Dr Julie Lloyd, a lecturer in genetics at the University of Essex who explained that children with undiagnosed conditions could have new or hereditary mutations in their DNA.

However, due to the huge scale of genes within our bodies it could be that current sequencing methods are unable to detect small changes. This is therefore why our families continue to be undiagnosed.

However, 12000 families througout the UK will benefit from new research currently taking place.

The Deciphering Developmental Disorders study, being run by the Sanger Institute in Cambridge is using advance sequencing technology to identify new mutations in the families’ DNA. It is hoped that with the new technology, and a computational approach, a diagnosis will be found for many of the families involved.

Deciphering Developmental Disorders is a research study being done by the Sanger Institute in Cambridge. The study aims to sequence the genes of 12,000 children and their families to discover previously unrecognised genetic disorders- diagnosing the undiagnosed.