Thousands of people across the West Midlands have taken part in a pioneering NHS research project. The 100,000 Genomes Project could provide genetic diagnoses for some people, and could lead to personalised treatments in the future. September was the final month of recruitment for those with rare diseases and their families.

Since rare disease recruitment to the 100,000 Genomes Project began, 9615 people in the region have consented across 16 NHS Trusts as part of the West Midlands Genomic Medicine Centre (WMGMC).  

One of the final families to take part in the project before whole genome sequencing moves into routine NHS care is the Cook family, who live in Coventry.

Aiden Cook, aged six, has recently been diagnosed with Worster Drought Syndrome, a rare type of cerebral palsy.

Aidan has had problems with the control of his muscles in his mouth, tongue and throat since birth, which has caused issues with feeding, swallowing and speech.

The Cook family have learnt Makaton (a form of sign language) to help with communication, but Aiden found it difficult to shape his hands to make the signs and now uses a computer to communicate.

Aiden’s occupational therapist noticed spasticity in his limbs, and his speech therapist believed he had a neurological cause for his difficulties speaking, referring the Cook’s onto the WMGMC team.  

“We all thought that taking part in this project would be a good thing, as it may provide us with a better understanding of why Aiden is the way he is and help other children in the future,” said Aiden’s mum Jane.

“By taking part, similarities with other children may be found, which could help with earlier diagnosis of Worster Drought Syndrome in the future.

“Genomics looks to be the way medicine is going, and hopefully it can enable healthcare teams to make individualised treatment plans.”

Aiden and his family were recruited to the project at the Queen Elizabeth Hospital Birmingham (QEHB), part of University Hospitals Birmingham NHS Foundation Trust (UHB), the lead organisation for the WMGMC.

The WMGMC is one of 13 centres across England recruiting to the 100,000 Genomes Project, with more than 90,000 genomes already sequenced.

As well as those with rare diseases and their families, thousands of patients with cancer have also taken part, with cancer recruitment expected to end at the end of November. Genomic testing will move into routine NHS care, with a Test Directory offering guidance to clinicians on the range of potential genetic tests.

To find out more about Worster Drought syndrome, visit the website via the link below.