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
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
Central and South Genomics Newsletter Read More »
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 »
The application phase for the 2023 update of the National Genomic Test Directory is currently open. Please find below an overview of the process for updating the test directory; Application phase The deadline for applications is the 31 August 2022 – application forms can be downloaded here. Please note that there is a form for applying for a new clinical
On July 20 2022, colleagues from across the Central and South Genomic Medicine Service Alliance region met to share expertise in the exciting field of Long Read Sequencing Technologies. Attendees travelled from across the Central and South region, which covers the West Midlands, Thames Valley and Wessex, for the networking event which provided an introduction
Central and South hold Long Read event Read More »
Human Genetics and Genomic Medicine Seminar Genomics England and the research ecosystem: 100,000 Genomes and beyond July 21 2022, 13:00-14:00 Via Teams About the Event The National Genomic Research Library (NGRL) is a comprehensive database that enables approved researchers to access de-identified genomic data, health data and samples. It is a partnership between NHS England
Human Genetics and Genomic Medicine Seminar Read More »
