Completed Pregnancy, Children & Inherited Conditions Psychology & Behaviour

Deciphering Developmental Disorders

Funder NIHR (part of DHSC)
Recipient organisation Wellcome Sanger Institute Source-published name: Wellcome Trust Sanger Institute
Funding £4.4M
Period Oct 2010 — Mar 2017

In plain English

AI plain-English summary

Every year, thousands of UK babies are born with developmental problems caused by hidden errors in their DNA, yet most never receive a genetic diagnosis. The problem is that current diagnostic methods rely on a doctor recognising a child’s physical features and symptoms, plus microscope-based chromosome checks that only catch large genetic rearrangements. Newer molecular tests can detect much smaller, previously invisible DNA changes, but they are not widely or consistently used. Worse, scientists often lack the basic knowledge to link a specific genetic change to a specific set of symptoms. This leaves the vast majority of affected children without a diagnosis. The researchers plan to apply state-of-the-art molecular testing to 12,000 UK children with abnormal development. They will build a publicly accessible online catalogue that connects genetic changes to clinical symptoms. Using this data, they will then design cheaper, more efficient diagnostic tests. If successful, this would transform clinical practice by making precise genetic testing available to every child with developmental problems in the UK, ending the diagnostic dead-end that currently leaves families without answers.

View original technical description
Thousands of babies are born each year in the UK who fail to develop normally because of errors in their genetic makeup. Currently, diagnosis is restricted to a small minority of children and requires the clinician to recognise the appearance of the child and the pattern of symptoms, supplemented by the use of microscopes to identify large rearrangements of the genetic material in chromosomes. Research shows that the latest molecular testing methods identify previously undetectable changes in chromosomes allowing new diagnoses to be made. However, clinical use is hampered by the limited availability and inconsistent application of these technologies, and by lack of basic knowledge to link genetic changes directly to symptoms. The consequence is that clinical diagnoses remain impossible except for a small number of children. We propose to apply state of the art molecular testing to 12,000 UK children with abnormal development. The results will provide a unique, on-line catalogue of genetic changes linked to symptoms that will enable clinicians to diagnose developmental disorders. Furthermore, we will design more efficient and cheaper diagnostic assays for relevant genetic testing to be offered to all such patients in the UK and so transform clinical practice for children with abnormal development.

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Related Research

Grants with similar aims, by meaning.

Deciphering Developmental Disorders.
Massively Parallel DNA Sequencing for Detection of Balanced and Unbalanced Genomic Structural Variations in Genetic Diagnosis of Patients with Learning Disabilities.
The development of next generation DNA sequencing technologies for the diagnosis of genetic disease.
Genetic and Biochemical Investigations of Children with Symptoms Suspicious for an Inherited Metabolic Disease
Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE)

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