Investigating the Genetic and Developmental Basis of Lipoedema
by Erik Lontok
The Lipedema Foundation is proud to announce the ethics approval and launch of a new Australia-based, multi-institutional collaboration designed to study the genetic and developmental basis of Lipoedema! During my recent visit Australia, I was hosted by LF Team Adelaide grantees Chris Hahn, Eric Haan, Natasha Harvey, Kelly Betterman, and Hamish Scott (Figure 1), as well as Neil Piller, Michelle Parsons, and Marielle Esplin (not pictured, but met!). The research study was announced and recruitment began during the 2018 Lipoedema Australia National Conference.
Figure 1: Dinner and Science with (from left-right) Chris Hahn, Eric Haan, Erik Lontok, Natasha Harvey, Kelly Betterman, and Hamish Scott.
Our discussions focused on the institutional and administrative challenges involved in launching a multi-institutional collaboration. For example, unlike single or multi-institution studies in the U.S. that require only an ethics approval from each organization’s Institutional Review Board (IRB), Australian research institutions require both ethics and governance approval, the latter involving documentation that justifies why the proposed research must occur at that particular institution.
Figure 2: Left, PacBio Sequel Platform (left) and Roche GS Juior, hidden behind boxes (right).
Another notable aspect of the Team Adelaide award is their process for return of results from actionable findings. Given the immense capability of genetic sequencing to identify single base pair changes in our genomes, which can be normal or involved in disease, studies of this type are ideally required to establish a process for sharing with study participants what certain actionable findings might mean for them. While we do not yet know what each of these changes mean, when researchers find a result that they can interpret and connect to a specific result, our colleagues in Australia are then well-suited to explain what these results might mean to an individual!
One of the highlights of my trip was a tour of the South Australia Centre for Cancer Biology, one of the leading accredited centers in Australia for pathological sequencing of patient samples for disease and genetic markers. Hosted by Professor and Co-Principal Investigator Hamish Scott, the tour exposed the exciting breadth of the Centre’s DNA sequencing capabilities. Their long and storied experience in this field was evident from not only their extensive single cell and transcript platforms, but also their 2nd generation PacBio Sequel System (released 2015) and their 1st generation Roche GS Junior (released 2005), occupying the floor next to the PacBio platform (Figure 2).
The study, which is now enrolling patients, is open to anyone based in Australia. More information can be found in their research flyer here.
We are excited and eager to find out what Team Adelaide will learn about the genetic causes and drivers of Lipedema, and look forward to sharing progress updates on this promising endeavor.