Developing the next gen of mito medicine
At a Mito Information Day, Dr Richard Lee spoke about his research using a combination of genetically edited cells and patient cells to understand the fundamental mechanisms underlying mitochondrial diseases. He has discovered a novel multi-system mitochondrial disease spectrum caused by newly discovered variants in the mitochondrial gene CRLS1. He researched how breakdowns in key mitochondrial functions drive disease pathogenesis and identified lipid and protein signatures that can be used to increase the speed and accuracy of diagnosing this new mitochondrial disease in the future.
Transition – moving to adult health careView Video
Rachael Havrlant (Transition Care Network) spoke about the transition from paediatric care to adult care. She covered the basics and touched on the surprises people may face as they move to adult care. She also covered the difficulties children can face during the transition phase and how their families/carers can support them to have a better experience.
Pathways to diagnostic testing for mito in childrenView Video
Dr Balasubramaniam spoke at a Mito Information Day on the pathways to genetic tests for children.
She delved into the barriers that families often face when considering genetic testing and gave valuable insights into what families should be aware of before making the decision to pursue genetic testing.
Mito Connect Call - Peer Support NetworkView Video
This Mito Connect Call introduces the Mito Foundation Peer Support Network. The network offers one-on-one support for mito community members. We know that sometimes the best support comes from someone who has similar experiences to you. Watch this recording to learn more about the Peer Support Network, including how to access it.