Lipoedema UK’s role in the Genetic Analysis of Lipoedema Project – St George’s University Trust

Professor Peter Mortimer

Professor Peter Mortimer

The Lymphoedema department at St George’s Hospital lead by Professor Peter Mortimer and Dr Kristiana Gordon has renowned expertise in diagnosing both Lymphoedema and Lipoedema. The department also takes part in extensive patient studies and genetic research in both of these areas, attempting to identify the defects in the genetic code that define both conditions.

Dr Kristiana Gordon

Dr Kristiana Gordon

Having heard about the amazing work that the team was doing to advance the understanding of Lipoedema, Lipoedema UK wanted to get involved. Therefore, Dr Gordon, Dr Ostergaard and Professor Mortimer were invited to the Lipoedema UK’s 2016 conference explaining the research project. This lead to a large donation to continue their work.

Glen Brice and Dr Pia Ostergaard

Glen Brice and Dr Pia Ostergaard – Researchers from St George’s Hospital, London at Lipoedema UK Conference 2017

In 2017 Dr Pia Ostergaard and St George’s Nurse Glen Brice attended and gave an update at our Sheffield conference, and over 50 of our conference members were able to enrol in the research project over the conference weekend.

Lipoedema UK were also able to arrange for other groups of patients to meet with Glen Brice, where tissue samples and statistics were taken over a two-hour period, which normally would have taken St George’s several weeks to arrange.

Thanks to these efforts, approximately 300 individuals have been consented to the study, 247 of these are lipoedema cases, the remainder unaffected relatives. Recruitment for the project has now closed, but the team at St George’s is currently analysing the many SF36 Quality of Life questionnaires that all the recruits so kindly have filled in and the group is hoping to publish their findings later this year.

The St George’s team also proposed to get Lipoedema included in Genomics England’s 100,000 Genomes Project https://www.genomicsengland.co.uk/). This is a NHS and National Institute for Health Research effort to provide a resource of 100,000 whole genomes from NHS patients with rare diseases and their families. The aim is to promote new genetic discovery and medical insights to those rare disease for which we still do not understand the genetic cause. Just over 90 individuals with lipoedema were recruited to the 100,000 Genomes Project and the St George’s team will have access to the Whole Genome Sequencing (WGS) data for those.

Dr Pia Ostergaard presenting at a Lipoedema conference

Dr Pia Ostergaard presenting at a Lipoedema conference, explaining the research project

The St George’s team has analysed the genetics of several lipoedema families, which is the traditional approach in a genetics study. The team thought they had some potential candidate genes, however, on further analysis these variants turns out to not have any pathogenic effect on protein function, i.e. these variants are deemed benign. Therefore, the hunt must continue.

The team therefore obtained genotyping data from over 170 of the recruited individuals, for use in a what is called a genomewide association study (GWAS). This is another type of genetic investigation, which researchers can use to decipher genetic diseases. The GWAS would allow the St George’s team to identify regions in the lipoedema cohort which are similar, but different to a control population. Thereby, regions with faults in the genetic code causing lipoedema can be highlighted. Still, this would not reveal the exact nature of the problem but would be an initial signpost. The team will then take the results from the GWAS and look in the WGS sequencing data from the 100,000 Genomes Project plus an additional 80+ Whole Exome Sequencing (WES) data available to the team. This would hopefully allow them to decipher the specific genetic defects causing this condition.

The St Georges’s team’s quest to understand lipoedema is continuing and will depend on renewed funding for the project.

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