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Lucy Raymond

The genetic basis of intellectual disability

The aim of my group is to identify and understand the genetic causes of intellectual disability. Until recently the focus has been on X-linked disease, as it is thought to account for the majority of familial cases and it was experimentally the most tractable.

Strategies that are being used to identify the cause of human disease are to perform high throughput sequence analysis and array CGH on samples from families with disease. Both techniques are powerful and have yielded useful results to date. We are continuing to do this by more detailed analysis of the X chromosome and also analysis of autosomes as a cause of intellectual disability as the predictions are that there are ~2000 genes throughout the genome that are critical to normal intellectual development. 

We are also investigating specific gene abnormalities and trying to understand the mechanism of disease both in our own laboratory and in collaboration with other research groups. Our work has led to the identification of a number of new syndromes and greater understanding of the sequence variation of the human genome.

Key papers:

Noor, A., Whibley, A., Marshall, C.R., Gianakopoulos, P.J., Piton, A., Carson, A.R., Orlic-Milacic, M., Lionel, A.C., Sato, D., Pinto, D., Drmic, I., Noakes, C., Senman, L., Zhang, X., Mo, R., Gauthier, J., Crosbie, J., Pagnamenta, A.T., Munson, J., Estes, A.M., Fiebig, A., Franke, A., Schreiber, S., Stewart, A.F., Roberts, R., McPherson, R., Guter, S.J., Cook Jr, E.H., Dawson, G., Schellenberg, G.D., Battaglia, A., Maestrini, E., Autism Genome Project Consortium, Jeng, L., Hutchison, T., Rajcan-Separovic, E., Chudley, A.E., Lewis, S.M., Liu, X., Holden, J.J., Fernandez, B., Zwaigenbaum, L., Bryson, S.E., Roberts, W., Szatmari, P., Gallagher, L., Stratton, M.R., Gecz, J., Brady, A.F., Schwartz, C.E., Schachar, R.J., Monaco, A.P., Rouleau, G.A., Hui, C.C., Raymond, F.L., Scherer, S.W., and Vincent, J.B. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2, 49-68 (2010).

Baker, K., Raymond, F.L. and Bass, N. Genetic investigation for adults with intellectual disability: opportunities and challenges. Curr Opin Neurol 25, 150-158 (2012).

Froyen, G., Belet, S., Martinez, F., Santos-Rebouças, C.B., Declercq, M., Verbeeck, J., Donckers, L., Berland, S., Mayo, S., Rosello, M., Pimentel, M.M., Fintelman-Rodrigues, N., Hovland, R., Rodrigues dos Santos, S., Raymond, F.L., Bose, T., Corbett, M.A., Sheffield, L., van Ravenswaaij-Arts, C.M., Dijkhuizen, T., Coutton, C., Satre, V., Siu, V. and Marynen, P. Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet 91, 252-264 (2012).

Dr Lucy Raymond

University Reader in Neurogenetics

Department: Medical Genetics

Contact:

flr24@cam.ac.uk

01223 762609

01223 762812 (PA)

Plain English

Intellectual disability is present in 0.5% of the population. The effects are wide ranging, and affected individuals may have difficulty learning and developing skills for everyday life. Our research goal is to understand the genetic changes that are present in the DNA of these patients, in the hope of characterizing the causes of this disorder. We conduct detailed analysis of the whole DNA genome in affected families, and this has allowed us to identify novel genes that contribute to this disease. A vital new part of this is our participation in a collaborative UK initiative to analyse the genomes of 10,000 patients in unprecedented detail. 

Group members

Peng Gong · Detelina Groseva · Olivera Spasic-Boskovic · Eleanor Dewhurst · Kate Baker

Funding

Action Medical Research

Birth Defects Foundation

Cambridge Biomedical Research Centre

NIHR Rare Diseases Bioresource

Wellcome Trust UK10K