A young, healthy spleen (left) and a spleen impacted by dysferlinopathy (right).

The JAIN Foundation funds basic and translational research focused on understanding and curing dysferlinopathy. JAIN has awarded CHIRI researcher Dr Connie Jackaman, in collaboration with Dr Hannah Radley (also CHIRI) and Prof Miranda Grounds (UWA), with funding of $159,089 for immune-based research into this form of muscle disease.

Connie, a mid-career research fellow with CHIRI and Curtin Medical School, and the team will use the funding to systematically investigate changes across various immune cells in dysferlinopathy during ageing.

One example of this is looking for structural changes in tissues involved in immune function, such as the spleen (see images above).

With the infiltration of immune cells and inflammation strongly associated with dysferlinopathy, the team is hoping the research will identify the specific nature of the immune dysregulation underlying the disease to identify potential therapies.

CHIRI’s Dr Connie Jackaman and Dr Hannah Radley are collaborating with Prof Miranda Grounds, from the University of Western Australia, on this research.

“There are immune-related drugs which could potentially be used to treat dysferlinopathy, however knowledge on how effective these might be is limited due to a lack of detail about the immune mechanisms at work behind the disease,” Connie said.

“With the support of the JAIN Foundation, our research team will look to identify the best potential immune-related targets for dysferlinopathy.”

New insights from the study will help inform decisions around the selection of appropriate candidate drugs for therapy. They may also help to identify immune-related biomarkers associated with dysferlinopathic changes.

More information on Connie’s research is available on the JAIN Foundation website.