Understanding genetics and getting a genetic diagnosis

Emma Celis and Prof David Thorburn break down the complexity of genetics to help you know the different types of variants that apply to mito. They then talk through a range of genetic testing options available and explore how and where to access genetic testing.

 

 

More Videos

Link to Mito Connect Call: Finding Quality NDIS Services & Supports Video

Mito Connect Call: Finding Quality NDIS Services & Supports

View Video

In this Mito Connect Call, Ruth Yuthok (Mito Foundation’s NDIS Navigator) discusses finding quality NDIS services and supports.

Link to Making Mito Mighty: Finding treatments for mito Video

Making Mito Mighty: Finding treatments for mito

View Video

At a Melbourne Mito Information Day, Cameron McKnight discussed how he has used human stem cell models of mitochondrial disease to study promising drug treatments for heart muscle cells.

Link to Transition – moving to adult health care Video

Transition – moving to adult health care

View 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.

Link to Pathways to diagnostic testing for mito in children Video

Pathways to diagnostic testing for mito in children

View 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.

Link to Mito Connect Call - Peer Support Network Video

Mito Connect Call - Peer Support Network

View 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.

Link to How your feedback is improving NDIS support Video

How your feedback is improving NDIS support

View Video

In this Mito Connect Call, Ruth Yuthok (Mito Foundation’s NDIS Navigator) introduced new web content full of valuable resources and case studies that reflect the positive impact of assistance on individual NDIS plan outcomes.

Link to Mitochondrial Genetics Video

Mitochondrial Genetics

View Video

Michelle Cao explains the importance of genetic testing, the difference between direct-to-customer genetics tests and why your medical team may not accept their results, along with introducing the process of getting a genetic test in Tasmania.

Link to Gastrointestinal Manifestations of Mito Video

Gastrointestinal Manifestations of Mito

View Video

Dr Christine Wools is a Melbourne-based Neurologist who works closely with the mito community. She explores the topic of mito and the gastrointestinal system – the clinical features and management of these.

Link to Your Hearing Video

Your Hearing

View Video

Katie Tharle introduces Hearing Australia and provides an overview of what they do around the country. She also talks about hearing aids, the different kinds and options, the pros and cons of these options, and the services Hearing Australia offers.

Link to Understanding epilepsy and seizures in mito Video

Understanding epilepsy and seizures in mito

View Video

Prof Mary Kay Koenig discusses the most common seizures found in children and adults with mito, reviews how and why seizures occur, and the treatment and precaution recommendations.