100,000 Genomes Project leads to first rare disease diagnoses

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  • The men are benefiting from ground breaking developments in whole genome sequencing, which will now allow them to receive effective, personalised treatment. Their diagnoses should also prevent future generations who share their DNA from living with uncertainty, should they exhibit similar symptoms.
  • One of the patients, 57-year old Leslie Hedley has a lifelong history of high blood pressure and protein in his urine, which has led to kidney failure. The other two patients are brothers that have a genetic mutation that resulted in a diagnosis of inherited nerve damage, or peripheral neuropathy.
  • The 100,000 Genome Project will run across three years, gathering data that should improve the diagnosis and targeted treatment of genetic disease. Professor Mark Caulfield, chief scientist at Genomics England, said the project was “delighted”to be delivering its first results, and promised that more diagnoses will follow “over the coming months”.

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