UK Daughters DNA Is Helping Other Families
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by
Ree Webster
How the 100,000 Genomes Project is helping those with rare diseases, help those with rare diseases…
Laura and Michael O’Hare’s daughters both passed away just a few weeks after birth, as a result of being born with a rare genetic disorder.
Initially the parents were left distraught and not knowing what to do, with way more questions than any answers. Since the deaths were so sudden, they really had no idea what happened or why.
But in a positive twist, Laura and Michael were able to get their answers, receive some closure, and be given a genuine reason to be proud of their young babies, all thanks to their involvement in an innovative project mapping rare disease DNA across the UK known as 100,000 Genome Project. Laura said:
“I take a lot of comfort from the fact that our daughters’ stories and their short lives are now helping other families.”
Anna and Olivia’s Story
Michael and Laura, who now live in Lurgan, were among the first participants from Northern Ireland.
Their first daughter Anna was born in 2016, but sadly passed away just 29 days later. Laura explained:
“At the 20-week scan we were told there may be an issue, and when she did pass away we were of course heartbroken.
“But at that stage the medical staff thought it was a one-off and we wanted to try and have another child.”
In 2017, Olivia, their second daughter was born, but she also died only 64 days later. Michael added:
“We were again devastated and not having answers at that stage was really hard.
“But after Olivia, the doctors obviously began to realise that it was possibly something genetic and that’s when we were introduced to the 100,000 genome project and Dr McKee, and that changed everything.”
What Is The 100 Genome Project
The 100,000 Genomes Project is a UK-based initiative aimed at advancing the understanding and treatment of rare diseases and certain cancers through genetic research. Launched in 2013, the project involves sequencing the genomes of 100,000 patients and their families to uncover genetic variations responsible for rare conditions.
Researchers hope to improve diagnoses, uncover genetic patterns, and eventually develop tailored treatments by analyzing this massive dataset. The project represents a significant step forward in personalized medicine and enhances the UK’s capacity for genomics research.
For over a decade, the 100,000 Genomes Project has been tracing and comparing the genomes of tens of thousands of patients with rare diseases and their relatives. After doctors began to suspect it may have been genetic, they enrolled the daughters in the program.
Dr Shane McKee, originally from County Tyrone and now a consultant in Genetic Medicine at the Belfast Trust, led the Northern Ireland branch of the UK-wide project. Since 2013, the lab has been using the latest technology to analyse the genetic sequence of 100,000 patients across the UK with rare disorders and their family members. Dr McKee said:
“Our genome and DNA are the instructions that put us all together, and we’re all made up of it, it comprises a huge amount of information…
“For example, if you were to print out the DNA of one person on normal size paper and stack it up, it would be the size of the Eiffel Tower.”
“So the 100,000 genomes project has been hugely ambitious, to sequence the genomes of all these people to try and find any slight changes…
“Fortunately we have huge computers to help with that, and the whole point is to try and give families answers.”
Diagnosed With Fowler Syndrome
Dr McKee turned out to be right, as it would eventually be found that their daughters had a rare disease known as Fowler Syndrome. This is a genetic disorder that affects the embryo when it is growing in the womb. It causes the blood vessels within the lining of the brain to overgrow and form a barrier that stops the cells from migrating from the inner part of the brain to the outer part of the brain.
Laura said being able to put a name to their daughters’ genetic condition has been hugely important in their grieving process.
“It did help bring a form of closure, and we also found out that most children with Fowler Syndrome would pass before being born or very soon after.
“So it makes those weeks that we had with both our girls even more special, to know they defied the odds.”
Dr McKee said that helping to find the precise genetic causes of rare diseases will ultimately help advance scientific understanding and hopefully design better treatments. Michael added:
“We might not get to spend our lives with them, but the fact that our girls might help other families is amazing to me.
“As a daddy, if I wanted our girls to go on and achieve something, you can’t ask for anything more than that, I’m so proud of them.”
Benefits of the 100 Genome Project
Early diagnosis is extremely important, since there’s typically very little knowledge about any rare disease, having the time to explore different avenues is crucial when it comes to finding a treatment.
The new 100,000 Genomes Project now maximizes the resources experts have to draw from, which in turn, will uncover more treatments, and as a result, provide more feedback into the database.
The comprehensive database offers numerous benefits, especially in diagnosing and understanding rare diseases. By sequencing the genomes of patients and their families, the project helps identify specific genetic mutations, providing families with clear diagnoses and genetic counseling options.
This information also accelerates research on genetic diseases; paving the way for personalized medicine and targeted treatments. Additionally, the project strengthens medical knowledge, helping doctors and scientists to predict the risk factors of disease and develop preventative strategies. As a large-scale genomic resource, it will also provide support for the the development of treatments for future generations to come.
In Conclusion
In conclusion, the 100,000 Genomes Project represents a transformative advancement in understanding rare diseases, bridging the gap between complex genetic conditions and the families affected by them. For families like Laura and Michael O’Hare, the project helped them find peace by providing the essential answers to their rare disease search, a search that can take others much longer.
The O’Hares’ story exemplifies the project’s profound impact: turning personal loss into a legacy of hope, enabling future medical breakthroughs and supporting other families. As genetic research expands, the project fosters a future where rare diseases are diagnosed earlier, treated more effectively, and understood more deeply.
