DoH NEAT project
New genetic diagnostic technologies for consanguineous families at risk of recessive genetic disease
Funded by the Department of Health’s New and Emerging Applications of Technology scheme.
Project lead: Prof. G R Taylor
Purpose and outcomes
Build on existing pilot data using Genechip SNP analysis and a new mutation scanning technology (high resolution DNA melting) with software and technical innovations to improve applications, costs, advantages and limitations of recent developments in genetic technology to diagnosis.
Measure the costs, performance and throughput of high resolution DNA melting against existing mutation scanning technologies including high throughput DNA sequencing. Develop a more robust experimental process for greater ease of use and accuracy.
Evaluate the performance of gene dosage detection and the quality of data output from multiplex ligation probe amplification (MLPA), SNP chip, array CGH (including the novel approach of Amplicon Array CGH) and real-time PCR assays. Develop robust data analysis tools.
Summarise what is currently known regarding patient (particularly consanguineous family) attitudes towards genetic testing, carrier testing, prenatal diagnosis etc. Assess the national relevance and develop culturally and linguistically competent patient information resources.
Document the cost, acceptability and clinical benefit of applying these technologies in recessive disease, particularly in consanguineous Southeast Asian families in partnership with the Genetic Interest Group (GIG).
Improve the analysis of consanguineous pedigrees using Genechip data and implement robust operating procedures with the aid of innovative software.
Develop cost-effective gene test kits for rare recessive diseases, including Alström syndrome, non-syndromal microcephaly, Aicardi-Goutières syndrome.
Where appropriate, submit gene dossiers to the UK Genetic Interest Group to introduce genetic testing for recessive disease.
Organise best practice meetings and publish best practice guidelines based on these findings.
Basal ganglia calcification in the brain of a patient with Aicardi-Goutières syndrome. This recessive disorder shows many similarities to SLE, and results from intracellular nuclease dysfunction.