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
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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
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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
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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
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A life-saving test that allows doctors to spot a rare form of eye cancer in babies in the womb is being rolled out by the NHS in England this week. Now, thanks to a new NHS test developed at Birmingham Women’s and Children’s NHS Foundation Trust, the lead Trust for the Central and South Genomic
Babies to get new test for eye cancer in the womb to save their sight Read More »
