The Charity would like to say a huge thank you to Kusuma Trust UK for their extraordinarily generous donation of £104,000 to complete our Next Generation Genetics appeal to purchase a brand new genetic sequencer. 

 

The role of clinical genetics has made significant progress in recent years. Better understanding of certain diseases, their causes and the genetic makeup of an individual has changed the way patients are diagnosed and treated. This has enabled more personalised and effective care, resulting in improved patient outcomes and more lives saved. 

Royal Brompton and Harefield hospitals Genetics and Genomics Lab analyse more than 400 patient samples per month to confirm a diagnosis of a suspected inherited condition in patients who have symptoms and in their family members before symptoms start. To keep up with the growing demand for their services, they requested a new genetic sequencer that will result in more patients receiving the diagnosis of an inherited heart or lung condition faster. 

Soma Pujari, Executive Trustee from Kusuma Trust UK, said: "At Kusuma Trust UK we understand that to deliver newer better treatments needs constant updating of equipment. Royal Brompton Hospitals Genetics and Genomic Lab is one of four in the country providing specialist genetic sequencing for cardiac patients and one of three for lung diseases. We are pleased to support the purchase of a genetic sequencer again after our first grant in 2016 to help them provide rapid accurate diagnosis for more patients."  

The sequencer will help thousands of patients, like Sienna and her family. Sienna was just 14 months old when she dropped unconscious and had to be rushed to hospital whilst playing with her brother and friend at the park. Sienna was diagnosed with Brugada syndrome, a rare genetic condition meaning Sienna has a high risk of dangerous heart arrhythmias (an irregular heartbeat), cardiac arrests and sudden cardiac death. 

 The Genetics and Genomics Lab tested Sienna’s whole family and were able to diagnose her mother, brother and grandfather as also having Brugada syndrome. The family are now taking preventative steps to reduce the risk of potentially life threatening arrythmias from occurring. 

 This generous gift will help bring the certainty of a diagnosis to thousands of heart and lung patients and we are once again delighted by the support of Kusuma Trust UK.