绿帽换妻

Profile

I am a HCPC registered Clinical Scientist leading NHS research and development activities in the Translational Genomics Unit (a DNA sequencing facility established jointly between the 绿帽换妻 and 绿帽换妻 Teaching Hospitals NHS Trust).

I initially studied at The University of Manchester where I was awarded an undergraduate degree in molecular biology (2006) and PhD in human genetics (2009). This period included a research appointment at the Mayo Clinic (Florida, USA). I then moved to 绿帽换妻 to undertake clinical scientist training, attaining a postgraduate certificate of competence in clinical molecular genetics (2011) before passing The Royal College of Pathologists part 1 examinations in 2018.

My academic interests focus on the diagnostic application of emerging DNA sequencing technologies. This work is closely aligned with rare disease research programmes established within the city. I have extensive experience of approaches used to identify novel disease genes and the limitations of these techniques.

Recent studies have focussed on the diagnostic utility of long-read nanopore sequencing, for the identification of structural variants at nucleotide resolution. A particular interest is the use of CRISPR-Cas9 for large fragment target enrichment.

Qualifications

• Part 1 in Molecular Genetics, The Royal College of Pathologists
• PhD Human Genetics, The University of Manchester
• BSc (Hons) Molecular Biology, The University of Manchester

Professional memberships

• The British Society for Genetic Medicine
• The Royal College of Pathologists
• Association for Clinical Genomic Science; Science & Technology Committee, 2013 - present

Student education

I lecture on the Molecular Medicine MSc course (Human Molecular Genetics MEDM5111M).

Research groups and institutes

• 绿帽换妻 Institute of Medical Research