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Faster diagnosis from “transformation” gene project

CaptionTheir daughter was diagnosed with a treatable metabolic disorder caused by hereditary genetic failure Cambridge researchers have conducted the world's…

 Hana Loves Her Daughter Tilly


Their daughter was diagnosed with a treatable metabolic disorder caused by hereditary genetic failure

Cambridge researchers have conducted the world’s largest gene sequencing project in healthcare &#821

1; providing hope for better understanding of diseases and faster diagnosis.

Genomics England described the project as “transforming what it means to society and humanity”.

One of four participants with rare diseases got a diagnosis for the first time.

So far, parents of children with rare genetic conditions usually used to try to find the cause.

The 100,000 genesis project has completed this “diagnostic odyssey” for many families and, in some cases, led to effective treatments.

& # 39; Difference is amazing & # 39;

Hana Young’s daughter Tilly, six years old, who has a disorder that causes delayed development and seizure, had her through sequenced with both her parents.

In January 2018, she was diagnosed with GAMT deficiency, a treatable metabolic disorder, caused by a hereditary genetic defect.

Hana, from Gosport in Hampshire, told the BBC: “She used to be in and out of the hospital and was often very aggressive against her younger brother Arlo and others.”

“She lost the ability to go and had hundreds of attacks a day.”

Since Tilly has been on treatment, Hana says “the difference is amazing.”

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Cancer and rare diseases are both strongly linked to changes in DNA

“She communicates, full of life, her epilepsy is gone and she is no longer violent,” says her mother.

“Tilly is still seriously mentally disabled but she is so much better than she would have been without the diagnosis.”

If Tillys disease had been identified earlier, any long-term injury could have been prevented.

In total, approximately 85,000 people had their entire genetic code or through, sequenced, but because cancer patients also had their tumor DNA mapping, the number of genomes amounted to 100,000.

The human genome consists of billions of pieces of DNA that found in almost every cell in the body. It is the manual for life and errors can trigger a wide range of interference.

Cancer Linkage

Cancer and rare diseases were chosen for the project because both are strongly linked to DNA changes.

The cancer is triggered by mutations in genes, while the majority of rare diseases are also caused by errors in our genome.

Karen Carter, 46, is among 15,000 cancer patients who had DNA in their cancer tumor sequenced, as [19659000]] Image Copying

There is also a genome that they inherit from their parents.

She has had breast cancer and melanoma, but scans suggest she is free from the disease. plans to sequestrate a million genomes in Britain over the next five years

Karen, a pharmacist from Reading, told the BBC: “My brother and grandmother and two cousins ​​were all diagnosed with cancer at an early age and I would like to find out if there is anything in our family that causes us to get cancer – and that knowledge can help us alleviate the risks to others. “

About half of cancer patients who were sequenced as part of the project could then participate in a clinical trial or receive targeted treatment.

All genom sequencing has been performed at Wellcome Sanger Institute, near Cambridge, in laboratories operated by Illumina, a California biotechnology company.

The work has been supervised by Genomics England, which was established in 2013 specifically to deliver 100,000 Genome projects.

There are now ambitious plans to sequestrate a million genomes in Britain in the next five years, as genetic testing becomes more embedded in NHS care.

“Extraordinary Achievement”

Prof Mark Caulfield, Chief Researcher at Genomics England, said: “The sequencing of 100,000 saints marks an extraordinary Britain’s achievement that transforms the application of genomics into our NHS.”

The hope is that it will lead for faster diagnosis, improved disease prevention and more targeted drugs.

Sir John Chisholm, Chair of Genomics England, said: “Your health registry will eventually have a genomic spine, which means that what happens to you can be compared to what your therapist tells your doctor, and therefore a more accurate diagnosis or treatment will be available. “

When the first human genome was fully sequenced in 2003, it had taken 13 years and cost 2 billion.

Today, a DNA DNA sequence can be sequenced in just 30 minutes at a cost of 600 kronor.

The success of the 100,000 genesis project underscores Britain’s position as world leader in this field.

Prof Dame Sue Hill, Chief Scientific Officer of England said: “The results show how genomic medicine can transform life, and the opportunity now is to make this research reality by introducing sequencing technology as part of our world-leading NHS Genomic Medicine Service. “Follow Fergus on Twitter.

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