A Little Pot of Yeast

Last week I had an opportunity to visit the Research Institute of the Children’s Hospital of Eastern Ontario (CHEO) to meet the team who have been working on Kate’s rare recessive genetic disease. This was a highly anticipated day as the research into Kate’s disease has gone on ‘behind the scenes’, but is so important to us as a family. What was extra special to the dedicated team of scientists working on Kate’s disease, was the opportunity for them to meet her. These are not ‘frontline’ doctors. They don’t work in the ER, in the clinics, or on the in-patient floors interacting with families and getting to meet the children whose lives they impact so incredibly. For them, meeting Kate was a pretty great moment.

 

The amazing researchers working on Kate's genetic anamoly. Searching for a cure. We love these scientists!

The amazing researchers working on Kate’s genetic anomaly. Searching for a cure. We love these scientists!

 

As I’ve described before in previous posts, Kate was the first person in the world diagnosed with a rare recessive genetic mitochondrial disease. The disease has caused a mutation of one gene responsible for mitochondrion functioning. We’ve been asked not to share the name of the gene as the first ever research and clinical description for this newly discovered disease is still pending medical journal publication. (Man, I can’t wait to share that with all of you!)

Through collaborative research with researchers in the United Kingdom and Boston, USA, there are now 10 known cases of this disease worldwide over the last 20 years of available data. This is a childhood disease, that is progressive and life limiting. Kate is 1 of 4 children alive today with this disease.

There is currently no known treatment or cure for Kate’s disease, which means her physicians are only able to practise cautious monitoring of her condition and management of her chronic and acute symptoms.

BUT….

CHEO is working hard to change this for Kate by conducting incredible research and collaborating with the international team of doctors and research scientists working on this disease. They are trying to find the cause of the protein deficiency which leads to reduced mitochondrion functioning in Kate. They want to cure her disease.

They are using yeast as the ‘vehicle’ in which to implant Kate’s one gene mutation. Yeast is interesting as it can grow with either both strands of DNA, or only one (we as humans – and most living beings – need both sets in order to grow). So Kate’s research team can isolate the one gene and study its mutation more directly.

My little girl. A little pot of yeast.

My little girl. A little pot of yeast.

When they have that figured out, they’ll move on to her skin cells and examine the one genetic mutation and how it interacts with all of the genes in Kate’s DNA. It is super-scientific stuff, and I am really not doing it justice in describing it to you. I’m also be cautious about sharing too much (cat out of the bag and all that….).  Really incredible. And it will change the lives of many more people than Kate as they are establishing a bio-repository of the knowledge they are gaining by researching Kate’s rare disease.

 

A repository of yeast being built by examining Kate's disease.

A repository of yeast being built by examining Kate’s disease.

To look at your child’s disease from under a fume hood, being grown in a petri dish is pretty incredible. It was a moment.

This month I am practising being thankful. I am thankful for Dr.H and his team at the CHEO RIT for all of their incredible work.

 

And a shout out to #whatifhc

What if laboratory researchers and scientists had the opportunity to meet the families and patients whose lives they are saving?

 

Julie

3 Comments

  1. Julie how can I reach you to discuss your journey to these ‘scientists’ in greater detail. I have just been diagnosed with mito and like your daughter’s case. It has never been seen before…
    Thanks
    Lisa

    Reply

  2. I find it so amazing that scientists are able to do this. I do NOT have a science mind at all, and it is just so foreign to me how a dish of yeast can do all of that – and make food.

    Reply

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