Today marks the start of the annual Genomics Conversation campaign which this year has a focus on how genomics can feel ‘hidden’ for many professionals and their patients. The awareness-raising week, hosted by the National Genomics Education programme, will feature stories and activities that reveal how genomics is being used across the healthcare system, and […]
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This is a forum for education and discussion about using the Genomic Medicine Service in the Central and South region. The event will be held via MS Teams on Monday, June 26, from 15:00 to 16:30 This event is for clinicians working in community paediatrics, paediatricians and Paediatric Neurology (Consultant, Training Grades), Nurses and Allied
Genomics for the Daunted (overcoming obstacles) Read More »
A family in Aylesbury have recently received a rare disease diagnosis, after taking part in the Deciphering Development Disorders (DDD) study and 100,000 Genomes Project. Test results for Emilia Burgess, 23, showed a variant change in the CHD5 gene. CHD genes carry out many important functions, including controlling the function of many other genes. They
Genomic testing fills in missing jigsaw pieces for family Read More »
Spring 2023 Welcome to the second edition of the Central and South (CAS) Genomics Newsletter, in which we share updates from the CAS Genomic Medicine Service and Alliance and Genomic Laboratory Hub. Please let us know your thoughts on our newsletter, including topics you’d like to see covered in future editions. Get in touch by
Central and South Genomics Newsletter Issue 2 Read More »
A patient in Birmingham has become one of the first in the country to take part in a national genetic testing project, with the results guiding his treatment. Mohammed Usman, 9 months old, is a patient at Birmingham Children’s Hospital. Doctors suspected a potential genetic cause for his symptoms, and recommended genetic testing for monogenic
A family in Surrey are one of the first in the country to receive results from a new genomic testing project. Leo Swarbrick, who is 17 months old, was tested for monogenic Inflammatory Bowel Disease (IBD), with the results coming back negative. The project is being delivered by the Central and South Genomic Medicine Service
This is a virtual event to discuss some of the work that has been done to raise awareness of Monogenic Diabetes across our region. The event will be held via MS Teams on Wednesday, January 25, from 9:30 to 12:30 During the last 18 months, there has been a significant amount of work to promote
Monogenic Diabetes: Achievements and next steps Read More »
Summer 2022 Welcome to the first edition of the Central and South (CAS) Genomics Newsletter, in which we share updates from the CAS Genomic Medicine Service and Alliance and Genomic Laboratory Hub. The newsletter features our latest news and updates on key areas. We welcome any and all feedback. If you have any ideas or
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Ilona took part in the 100,000 Genomes Project through the Wessex Genomic Medicine Centre. She told us about how genome sequencing led to a breakthrough diagnosis for her critical illness.
NHS England is seeking feedback on the way clinical genomics services are delivered in England, and views on an NHS Genomics Strategy which will set the strategic direction and priorities for genomics in the NHS in England over the next 3-5 years. Please share the information on this page with all teams and colleagues you
NHS England seeking feedback on Genomics services and strategy Read More »
