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

Abstract

Neurofibromatosis type 1 (NF1), NF2 and schwannomatosis are genetically distinct tumor predisposing conditions, which display significant clinical overlap. Genetic diagnosis is critical in these cases, due to their differing prognoses and clinical management protocols. We are using a range of genetic techniques to identify the missing heritable elements in our cohort of families with NF1, NF2 or schwannomatosis. In our second year we have obtained HRPO approval for the use of patient samples. Due to the coronavirus pandemic, we have been working remotely from home for a significant part of the last year and laboratory-based research has been carried out at a lower capacity than usual. We have completed a genetic screen of schwannomatosis patients for potential causative genes. We have also compared the genetic involvement of LZTR1 loss in schwannomatosis vs 22q11.2 deletion syndrome. While working from home, we have also written a review article on non-coding variants in NF1, NF2 and schwannomatosis.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2021
Accession Number
AD1149357

Entities

People

  • Cristina Perez-Becerril
  • D. G. Evans
  • Miriam J Smith

Organizations

  • University of Manchester

Tags

DTIC Thesaurus Topics

  • Abstracts
  • Biomedical Research
  • Diseases And Disorders
  • Electronic Mail
  • Genetic Techniques
  • Genetic Testing
  • Genetics
  • Health Services
  • Management Personnel
  • Medical Personnel
  • Mutations
  • Neoplasms
  • Neurofibromatosis
  • Professional Development
  • Research Facilities
  • Risk
  • Stratification

Fields of Study

  • Medicine

Readers

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

Technology Areas

  • Biotechnology