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

Abstract

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.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2020
Accession Number
AD1107014

Entities

People

  • Cristina Perez-Becerril
  • Gareth Evans
  • Miriam J Smith

Organizations

  • University of Manchester

Tags

Communities of Interest

  • Biomedical

DTIC Thesaurus Topics

  • Biomedical Research
  • Data Analysis
  • Demographic Cohorts
  • Department Of Defense
  • Diseases And Disorders
  • Electronic Mail
  • Genetic Techniques
  • Genetic Testing
  • Health Services
  • Information Operations
  • Management Personnel
  • Nervous System
  • Neurofibromatosis
  • Patent Applications
  • Professional Development
  • Technology Transfer
  • Training

Fields of Study

  • Medicine

Readers

  • Clinical Trial Research.
  • Molecular and genetic basis of cancer.
  • Neurological Diseases/Conditions/Disorders

Technology Areas

  • Biotechnology