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This week’s blog was written by Jo Williamson, Chairman of The Phaeo And Para Cancer Charity! His son, James, illustrates his family’s story through beautiful comic strips, which walk you through his family’s journey of being diagnosed with a rare genetic form of cancer that sadly took the life of his mum and Jo’s wife. 

Their story highlights the power of collaboration between individuals, patient groups and medical professionals when looking to create a new innovative treatment for a rare condition. Findacure was lucky enough to play a small part in The Phaeo And Para Cancer Charity’s story, so we couldn’t be happier to share Jo’s story with you now. Please let us know what you think in the comments below and enjoy Jo’s guest blog!

Dr Mehta, who is my next-door neighbour, has spent his life since qualifying in the 1970s devoted to helping people who have, through an unfortunate genetic inheritance, a life-threatening disease. Dr Mehta’s main specialism of expertise is in the area of cystic fibrosis, where he has helped many families in The United Kingdom and Europe whose children have this debilitating genetic disease.

Dr Mehta was an incredible support to me and my family when unfortunately, my wife Sue Williamson was diagnosed with a very rare cancer called a phaeochromocytoma in 1993, and because the tumours had metastasised to her bones, she was given six months to live. Fortunately, Sue was able to uptake a highly toxic radioactive isotope which gave her ten years of normal life before sadly she passed away in 2003.

In 2010, I was told that the defective gene (SDHB) my wife had was genetic. I advised my four children that they should get tested for the faulty gene. The results showed that the eldest two children did not have the defective gene, but that my girl and boy twins had inherited the faulty gene from their mother. Both of the twins have inoperable tumours in their neck, and in the case of my daughter, her tumours have metastasised to her bones.

I was talking to Dr Mehta about my family situation in 2012 when he said that he felt he could help with the genetic problem my twins inherited. He explained to me that to progress with his cystic fibrosis work, he had to first understand how the defective gene that is responsible for cystic fibrosis works. He told me that if we could understand how the defective SDHB gene my twins inherited from their mother worked, then we would be able to make some progress.

Dr Mehta contacted a colleague of his, who is now living and working in Budapest, to see if she could assist in the understanding of the faulty SDHB gene. This colleague, Dr Krisztina Takacs, had worked with Dr Mehta on the faulty gene NM23/NDPK, which is responsible for cystic fibrosis. Dr Mehta consulted with Dr Takacs and drew up a plan and strategy to use C elegans worms to investigate the faulty SDHB gene in 2014. At the same time, he contacted a colleague based in Melbourne, Australia to carry out research into the faulty SDHB gene using single cell amoeba.

I went about the task of raising the £30,000, which was required to carry out the initial research into the faulty SDHB gene. I approached Findacure, a charity that is bringing the rare disease community together, for help in collecting the money we were raising. Findacure believes that when you combine everybody’s expertise and passion that the rare community becomes an unstoppable force. Findacure acknowledges that of the 7,000 rare diseases identified, only 400 have a licensed treatment. Findacure was a very important support in our initial research project. The money was raised and Dr Mehta, now retired, had volunteered his time to oversee all the research work being carried out in Hungary and Australia.

In 2018, I went about setting up a new charity called, The Phaeo and Para Cancer Charity. Dr Mehta recommended that the charity set up a scientific committee to scrutinise his objectives and use their areas of expertise to collectively discuss and debate the best way forward in the hope that this will also assist in the wider research of other cancers. Dr Mehta, with his wide range of contacts, managed to persuade three eminent doctors, including Professor Gordon Stewart as chairman, to become members of the Phaeo and Para Cancer Charity Scientific Committee to oversee the work of the charity.

 

With funding from The Phaeo and Para Cancer Charity, Dr Krisztina Takacs, a biologist in Hungary, made a tiny model animal with the same gene change as our affected family members. The animal is a very well-studied worm, Caenorhabditis elegant, only 2 mm long. Profs John Sulston and Sydney Brenner in Cambridge pioneered the study of this worm as a model animal and received the Nobel Prize in 2002 for their work.

Dr Takacs has now published a paper on the work she has done in Hungary since 2014, which looks at the faulty SDHB gene. Here is the link to the paper, which is available on the website of the journal DMM.

We can say from the early studies that:

 

  • We can see how the energy supply system is faulty in the worm.
  • We can cogently hypothesise a mechanism whereby this energy fault could lead to cancer.
  • We have a system upon which we can test possible drug treatments.
  • This may lead to improvements in knowledge and treatment for other malignant diseases.

In the peer review for her paper, Dr Takacs received some very positive comments, including:

“The preliminary data shows that this new model may be useful for drug discovery and development.”

“The authors have done an excellent job answering concerns and I believe this is a novel model and an overall informative study.”

We have also been laser sequencing two tumour blocks of my son’s, which are held at Dundee Ninewells tissue bank, to try to find a drug or cocktail of drugs that would help with the cancer. We have employed a Dundee company, MicroMatrices, to do the work as noted below.

‘Micromatrices will be looking at the cancer cells inside the removed tumour and analyse what these cells are doing in their process of living. They will laser dissect these cancer cells out of the removed tumour block, and compare their snapshot of activity to the surrounding non-cancerous cells dissected by the same laser. The advantage we have, Dr Mehta believes, is that we have two spontaneously arising cancers removed surgically from the same patient, James Williamson. If they have the same signature of genes, then we can try and target them by their profile of expressed genes. If the two cancers differ, despite both being removed together from adjacent sites in the abdomen, it will help us understand the evolution of this cancer.’

Dr Mehta understands that if we can prove the laser method on this case of two cancers in one person from the same (and known) genetic fault, then it will have very wide application as a ‘proof of principle’ across very many, if not all cancers, where the cause is more complex. This is highly significant and very exciting.

Dr Mehta explains that the faulty gene is in a highly conserved protein, which has made cell-electricity for hundreds of millions of years. Dr Krisztina Takacs is in parallel making (ancient worm) models of this cancer in Budapest, looking at how it affects embryonic development.
Worms are ideal because they have the same gene, can be manipulated to make the Williamson mutation, and have been extensively gene mapped from early embryo to hatching and onwards into adulthood. We know that the Williamson mutation produces highly cancer-like effects in such worms, which is why we are investigating this at present.

The two methods – laser and embryo development in worms – complement one another in our search for tailored treatments so that each treatment is exactly the right one to target each specific patient’s cancer. Right now, this is just a dream that many groups are researching. Dr Mehta’s hope for the future is that cancer will become just like any other manageable disease, which will be truly a huge step forward.

Thank you to all those who have supported us to help make this research possible. You can follow our Facebook page here.

Please share (when sharing you need to select share, write post and include original post, otherwise it will only share the link to our page), like and spread the word as we continue in our efforts to find a cure for this devastating condition. All donations to our charity to help fund further research can be made by clicking the ‘learn more’ button on our Facebook page or by following this link.

The Phaeo and Para Cancer Charity will continue to research the faulty SDHB gene in Hungary, Australia, and India with MicroMatrices in Dundee.

Jo Williamson Chairman The Phaeo And Para Cancer Charity.

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The power of collaboration: How one patient group partnered with medical researchers to find a treatment for a rare cancer

by Guest Contributer time to read: 8 min
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