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Detecting Missing Heritability for Risk Stratification and Clinical Management of the Neurofibromatoses

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Technical Report,01 Jul 2019,30 Jun 2020

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University of Manchester Lancashire United Kingdom

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Neurofibromatosis type 1 NF1, NF2 and schwannomatosis are genetically distinct tumour predisposing conditions. However, many cases display significant clinical overlap and genetic diagnosis is critical in these cases, due to their differing prognoses and clinical management protocols. We will use an extended range of genetic techniques to identify the missing heritable elements in our cohort of families with NF1, NF2 or schwannomatosis. In our first year we have recruited, inducted and carried out initial training of a postdoctoral research associate PDRA for this project. She has begun work on functional studies, originally intended for year three, while we await HRPO approval for use of patient samples. In addition, due to the coronavirus pandemic, we have been working remotely from home for over four months and during this time the postdoctoral researcher has been writing a systematic review on an area that is relevant to the project for publication.

Subject Categories:

  • Medicine and Medical Research
  • Genetic Engineering and Molecular Biology

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