The University of Manchester (Manchester Centre for Genomic Medicine)

Short Name: UM MCGM

Country: UK

Website: www.mangen.co.uk

Organization description:

The University of Manchester (UM) is the biggest UK university, with a reputation for education and research innovation that reaches across the globe. The UM is committed to research that crosses disciplines, cultures and countries and makes a real difference to people’s lives.

Department of clinical genomics – delivering genomic testing for rare disease and cancer Centre for genetics in Health Care.Academic centre

Lead for NW England Genomic Laboratory Hub

Expertise:

Clinical genomics; Delivery of genomic testing; Interpretation of genomic variation; Research Genomics. Cancer genomics, rare disease genetics, bioinformatics, pharmacogenetics.

 

World class integrated care pathways across the breadth of specialist services

The Greater Manchester Centre for Genomic Medicine is working to transform healthcare delivery by broadening and accelerating delivery of genomic medicine. The centre offers seamlessly integrated Genomic Medicine services of academic and NHS clinicians, counsellors, scientists and researchers (~250 staff) whose operations cover all of Manchester’s hospitals and hence penetrate most mainstream clinical services (e.g. cancer, cardiology, paediatrics and adult medicine).

Delivery of genetic services for rare and common diseases, linked to clinically-accredited genomic testing.

Genomic information is revolutionising healthcare for patients with both common and rare diseases including cancer. MCGM is using state of the art genomic technologies to inform diagnosis, and to direct effective personalised treatment alongside risk assessment and screening of high risk individuals. This leads to improved outcomes for affected individuals and disease prevention and early detection in families.

Integrated translational medicine

By linking genomic medicine services, state of the art clinical trials facilities and proteomics/metabolomics platforms, Manchester’s genomic medicine infrastructure is directly allowing implementation, development and delivery of precision medicine.

Facilities:

Extensive laboratory facilities for delivery of genomic testing

Large scale instruments

Process Equipment – Biological Sample Measurement / Analysis

Other European projects:

Member of European reference Networks for rare disease

Role in the project:

UM-MCGM will contributes its expertise as major genome center providing NGS diagnostics and will be memerb of the buyers group and contributes to WP2, WP3, WP5, WP6, WP7

Key personnel:

Professor Graeme C.M. Black OBE DPhil FRCOphth FMedSci, Male. Academic Scientific Director, NW Genomic Laboratory Hub.

Hon. Consultant in Genomics and Ophthalmology, Manchester Centre for Genomic Medicine, Professor of Genomics and Ophthalmology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester.

Main publications and awards:

Publications:

 

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay Taylor, R. L. & Black, G., 1 Jan 2019, In : Human Molecular Genetics. 28, 1, p. 96-104 8 p.

Research output: Contribution to journal › Article/ DOI: 10.1093/hmg/ddy330

Global birth prevalence of congenital heart defects 1970- 2017: updated systematic review and meta- analysis of 260 studies

Liu, Y., Chen, S., Zuhlke, L., Black, G., Choy, M-K., Li, N. & Keavney, B., 2019, In: International Journal of Epidemiology. Research output: Contribution to journal › Article DOI: 10.1093/ije/dyz009

Loss-of-function mutations in the CFH gene affecting alternatively encoded Factor H-like 1 protein cause dominant early-onset macular drusen

Taylor, R. L., Poulter, J., Downes, S., McKibbin, M., Khan, K. N., Inglehearn, C. F., Webster, A. R., Hardcastle, A. J., Michaelides, M., Bishop, P., Clark, S. & Black, G., 2019, In : Ophthalmology.

Research output: Contribution to journal › Article DOI: 10.1016/j.ophtha.2019.03.013

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper,

1. N., Dabir, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schäffer, A. A., Sen, S. K., Slavotinek, A. M., Fitzpatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C. M. & Biesecker, L. G., 2019, In : Journal of Medical Genetics.

Research output: Contribution to journal › Article / DOI: 10.1136/jmedgenet-2018-105836

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies McVeigh, E., Jones, H., Black, G. & Hall, G., 2019, In : Journal of community genetics.

Research output: Contribution to journal › Article/ DOI: 10.1007/s12687-019-00406-x2018

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Ellingford, J., Horn, B., Campbell, C., Arno, G., Barton, S., Tate, C., Bhaskar, S., Sergouniotis, P., Taylor, R. L., Carss, K. J., Raymond, F. L., Michaelides, M., Ramsden, S. C., Webster, A. R. & Black, G., 6 Jan 2018, In : Journal of Medical Genetics.

Research output: Contribution to journal › Article/ DOI: 10.1136/jmedgenet-2017-104791

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Taylor, R. L. & Black, G., 2018, In : American Journal of Human Genetics. 103, 4, p. 568 578 p., https://doi.org/10.1016/j.ajhg.2018.09.004.

Research output: Contribution to journal › Article DOI: 10.1016/j.ajhg.2018.09.004

C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation

Swinkels, M., Zhang, J. H., Tilakaratna, V., Black, G., Perveen, R., Mcharg, S., Inforzato, A., Day,

1. & Clark, S., 2018, In : Scientific Reports.

Research output: Contribution to journal › Article/ DOI: 10.1038/s41598-017-18395-7

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

Astuti, G. D. N., van den Born, L. I., Khan, M. I., Hamel, C. P., Bocquet, B., Manes, G., Quinodoz, M., Ali, M., Toomes, C., McKibbin, M., El-Asrag, M. E., Haer-Wigman, L., Inglehearn, C. F.,

Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. & Roosing, S., 2018, In : Genes. 9, 1, 21. Research output: Contribution to journal › Article / DOI: 10.3390/genes9010021

Awards:

Recently designated as NW England Genomic Laboratory Hub