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An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.

Amy V JonesDarin CurtissClaire HarrisTom SoutheringtonMarco HautalahtiPauli WihuriJohanna MäkeläRoosa E KallionpääEnni MakkonenTheresa KnoppArto MannermaaErna MäkinenAnne-Mari MoilanenTongalp H Tezelnull nullNadia K Waheed
Published in: PloS one (2022)
The relationship between Type 1 CFI rare variants increasing odds of AAMD are well established in Europeans, however the lack of broader genetic data in AAMD has adverse implications for clinical development and future commercialisation strategies of targeted FI therapies in AAMD. These findings emphasise the importance of generating more diverse genetic data in AAMD to improve equity of access to new treatments and address the bias in health care.
Keyphrases
  • healthcare
  • copy number
  • electronic health record
  • genome wide
  • big data
  • risk factors
  • emergency department
  • dna methylation
  • machine learning
  • cancer therapy