Photograph of 11-year-old Rubie Killian, Birmingham Children’s Hospital’s 2,000th 100k Genomes Project recruit.

Walsall girl becomes Birmingham Children’s Hospital’s 2,000th recruit to transformational national genetics study

An 11-year-old from Walsall has become the 2,000th patient recruited at Birmingham Children’s Hospital to a project that is looking to transform the diagnosis and treatment of rare diseases and cancer.

Rubie Killian, from Beechdale, who has been cared for by the specialist hospital for the last three years, has a condition called duplex kidneys – meaning she has two ureters (a tube that drains urine into the bladder) coming from a single kidney, rather than one which is usual.

The Bloxwich Academy student became the latest young person to take part in the national 100k Genomes Project last month.

Mum Nichola, aged 35 said:

“We were happy for Rubie to get involved in the project because without people like her taking part, it would be impossible to find answers and learn more about why these conditions happen.

“We really hope it will help people in the future and contribute towards families finding the answers they want.”

Since its launch two years ago the Children’s Hospital, part of Birmingham Women’s and Children’s NHS Foundation Trust, has been a keen supporter of the project that aim’s to make the UK the first country in the world to introduce this technology into its mainstream health system.

One of 18 NHS Trusts that have come together to form the West Midlands Genomic Medicine Centre (WMGMC), it’s dedicated hospital team was commended earlier this year by WMGMC Director, Professor Dion Morton, for its outstanding recruitment efforts.

More than 100 hospitals across the country are supporting the study – with Birmingham Children’s Hospital the second highest recruiter in the UK.

Dr Larissa Kerecuk, Consultant Paediatric Nephrologist and Clinical Lead for Rare Diseases at Birmingham Women’s and Children’s NHS Foundation Trust, said:

“We’re delighted that we’ve now recruited more than 2,000 children and young people to the 100K Genomes Project. Everyone is amazingly proud to be supporting the project, which we hope will transform how patients are both diagnosed and treated.

“The support of Rubie, her family and many others who have agreed to take part is vital. We’d like to say a huge thank-you to everyone that has taken part so far.”

Genomes are found in almost every cell of the body and are the instructions for making people who they are. Further information about the 100,000 Genome Project can found at www.westmidsgmc.nhs.uk.

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