Alex Blakemore

Alex Blakemore is a Visiting Professor at Imperial College London's Faculty of Medicine, affiliated with the Department of Metabolism, Digestion and Reproduction. Their research explores the impact of human genetic variation on health and disease, focusing on genomic integrity, copy number variation (CNV), and telomere biology. Blakemore's work bridges single-gene disorders (e.g., MCAD Deficiency) and population-based studies of complex diseases like obesity and type 2 diabetes.

Research Highlights:

• Refinement of the minimal region for Prader-Willi syndrome and discovery of mirror phenotypes (obesity/leanness) linked to 16p11.2 chromosomal regions.
• Development of the DS_Sequenom script for accurate genotyping in trisomic/duplicated regions.
• Leadership in the "Personalised Medicine for Morbid Obesity" initiative, integrating exome sequencing, CNV analysis, and metagenomics with behavioral and clinical data.

Key collaborations include the Biomedical Research Centre (BRC) and Medical Research Council (MRC), with recent EPSRC funding to implement smartphone technology for monitoring post-bariatric surgery outcomes. Blakemore also served as a Faculty of Medicine Ambassador for Women (2010–2013), advocating for gender equity initiatives via Athena SWAN.