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Dr Sunayna Best

  • Position: Clinical Research Fellow
  • Areas of expertise: genetics; genomics; variant interpretation
  • Email: S.K.Best@leeds.ac.uk
  • Location: WTBB
  • Website: ORCID

Profile

I graduated from University College London Medical School with Distinction in 2012. In my third year, I undertook an Intercalated BSc in Human Genetics in 2009, during which I completed a project designing an individualised preimplantation genetic diagnosis (PGD) protocol for a couple with Lynch syndrome. After graduating from medical school, I completed the Academic Foundation Programme in Clinical Genetics and an Academic Clinical Fellowship (ACF) in Paediatrics at Imperial College London. During my ACF, I completed two genotype-phenotype correlation studies that investigated ciliopathy syndromes (renal complications in Bardet-Biedl syndrome and laterality defects in primary ciliary dyskinesia (PCD)). These projects sparked my interest in ciliopathies and made me eager to do further research into variant interpretation and genotype-phenotype correlation. 

In 2016, I undertook an MSc in Genomic Medicine at Imperial and passed with Distinction. Following this, I did a year-long Clinical Fellowship in Genomics at Great Ormond Street Hospital, with roles in the 100,000 Genomes Project and two prenatal exome sequencing studies. I am now a Clinical Genetics registrar within the Yorkshire and Humber Deanery, currently out of programme from my clinical training undertaking a PhD. I am a Wellcome 4Ward North Clinical PhD Fellow, working under the supervision of Professor Colin Johson, Professor Chris Inglehearn and Dr Carmel Toomes in Leeds, and Professor Neil Hanley in Manchester.

I am doing a project entitled "Developing variant interpretation pipelines for inherited retinal diseases and ciliopathies: using medical genomics to find hidden mutations and improve diagnostic yield".  

 

 

Research interests

I have interests in ciliopathies, inherited eye diseases and strategies to improve genomic variant interpretation.

Qualifications

  • MBBS with Distinction. University College London
  • BSc Clinical Sciences with Human Genetics, 1st Class Honours. University College London
  • MSc Genomic Medicine with Distinction. Imperial College London

Professional memberships

  • Member of the Royal College of Paediatrics and Child Health

Student education

I teach regular genetics workshops to small groups of second year medical students within their Genetics in Medicine module.