Health Care : Current Reviews

University College London, UK

Biography

Lamia Mestek Boukhibar a BscHons degree in molecular genetics from King’s College London (2007) and completed her DPhil in genetics at Oxford University in 2010. She has held several postdoctoral positions at University College London and Imperial College where she worked on several basic research projects addressing the genetics of healthy ageing, and the genetics of biological robustness. Lamia then moved from basic to translational research in 2016 when she joined the Great Ormond Street Institute of Child Health and Great Ormond Street Hospital

Publications

• Short Communication   
  Closing the diganostic gap in rare genetic conditions
  Author(s): Lamia Mestek Boukhibar
  
  The diagnosis of rare genetic diseases has seen a leap in recent years thanks to technological advances in next generation sequencing. Government and private initiatives facilitate the adoption of such technologies both in clinical and research settings, which has advanced our understanding of rare genetic conditions. However, the diagnostic yield (30-60%) reflects the need for further approcahes to address this diagnostic gap. Lack of diagnosis is problematic at all levels and is mainly translated into missed opprtunities of coordinated care and potential therapies. Therore, despite the promissing achievements in both diagnosis methodologies and novel therapies, many patients remain undiagnosed. To address this unmet clinical need, we put together a framework that can easily be adopted in clinical and research seetings to narrow the diagnosic gap. This diagnotic gap workflow is a mul.. View more»
  

  Abstract PDF