Medics at Heart of England NHS Foundation Trust are involved in the 100,000 Genomes Project – a national ground-breaking project to sequence genomes from patients across the UK.

The aim is to collect and sequence 100,000 whole genomes – your body’s unique genetic code – from patients with rare diseases and their families, as well as cancer patients to enable doctors to understand the conditions better and potentially develop new treatments and patient-specific personalised care.

One patient who is involved in the project is Alexcia Williams, a six-year-old girl, who has been suffering from an undiagnosed condition since she was seven months old.

Alexcia’s condition has caused many illnesses, including recurrent chest infections, strep throat, nose bleeds and coughing up blood.

Her combined symptoms have been linked to genetic diseases such as Ehlers Danlos Syndrome and Hereditary Haemorrhagic Telangiectasia. However, despite numerous medical tests throughout her childhood, a definitive diagnosis has still not been found.

Alexcia’s family are hoping the genomes project will offer them not only diagnosis and treatment for Alexica, but also for her one-year-old brother Joe who is exhibiting the same symptoms as his sister. Read more

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