Research
Research Facilities
The Clinical & Molecular Genetics Unit is housed on the first and third floors of the main ICH building.
The unit has an automated genotyping and sequencing facility, a pyrosequencer, and dedicated access to level 2 tissue culture facilities. The proteomics and metabolomics core facility run by Kevin Mills is affiliated with the unit, facilitating access to technologies such as Tandem-MS, MALDI-TOF and 2D-DIGE. A BMG 96-well plate reader and Amaxa Nucleofector are also used within the unit. Other resources available within ICH include confocal microscopy, FISH microscopy and FACS sorting. The Institute has its own transgenic facility and microarray core. Close collaborations with the Human Developmental Biology Resource and Bloomsbury Centre for Bioinformatics exist.
Research Areas
The main research areas of the Clinical & Molecular Genetics Unit include:
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Genetic aetiology of intrauterine growth restriction |
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Free fetal DNA and prenatal diagnosis |
Lyn Chitty |
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Genetic deafness |
*Maria Bitner Glindzicz |
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Mitochondrial diseases |
*Shamima Rahman |
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Inherited metabolic disorders |
Peter Clayton |
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Hypothalamic-pituitary disorders |
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Adrenal and reproductive disorders |
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Hypoglycaemia, hyperglycaemia and disorders of insulin secretion |
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Fetal and post-natal growth/diabetes mellitus |
Peter Hindmarsh |
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Metabolomics and proteomics |
Kevin Mills |
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Paediatric metabolic disease |
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| Inherited neurometabolic disorders |
Simon Heales |
*Supported by Great Ormond Street Hospital Children's Charity
Page last modified on 08 apr 13 14:43
