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UK Undertakes Development Disorder Genomics Project

By a GenomeWeb Staff Reporter

NEW YORK (GenomeWeb News) – A new project in the UK led by the Wellcome Trust Sanger Institute and the National Health Service will analyze the genomes of up to 12,000 children with physical and mental developmental problems and multiple birth malformations in the hopes of developing new tools to diagnose these disorders.

The Deciphering Development Disorders program will use the resources of all 23 of the NHS Clinical Genetics Services across the UK to collect comprehensive genomic data and to develop clinical tools for diagnosing the genetic causes for these developmental problems, Wellcome Trust said on Tuesday.

Funded under the Health Innovation Challenge Fund, a partnership between the Department of Health and the Wellcome Trust, the five-year effort will incorporate the genomic data on these children with information about their physical and mental characteristics.

Sanger Institute's Molecular Cytogenetics Team leader Nigel Carter, who also will lead this effort, said that more than 6,000 babies are born in the UK with serious developmental disorders, but currently, according to Wellcome Trust, only a small number of them can be diagnosed before they begin to present patterns of symptoms.

"By linking together the expertise in genomics at the Wellcome Trust Sanger Institute with the unique network of Clinical Genetics Services offered by the NHS, these families can directly benefit from the rapid growth in our understanding of the human genome," Carter explained.

The research will use next-generation sequencing tools to seek out copy number variations, exon deletions, and single changes in base pairs that may be causing these developmental disorders.

The DDD project also will lead to an expansion of the DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources) database, which was started in 2004 to support clinical interpretation of genetic variations and provides the information from clinical centers around the world.

The dataset will enable researchers studying child development to link genetic variants to phenotypes and to identify potential molecular targets for treatments, as well as for diagnostics tools.

"Importantly, the DDD project will also be carrying out research with patients and health professionals to identify and analyze the ethical issues likely to arise in the use of these tools and to work towards the development of appropriate models of good practice in the care of patients and their families," added Mike Parker, Director of the Ethox Centre at Oxford University and co-applicant on the DDD.