News
Keep up to date with all the genomic related news and the latest events across the Central and South geography.
- Leading Imprinting Disorder Service at Southampton University Hospitals NHS Foundation Trust
We have a broad and varied geography at Central and South Genomics, with patients across our patch accessing testing across our many labs and services. But did you know that we have an Imprinting Service based in Southampton which specialises in highly complex imprinting disorders, taking patients from across the country and offering guidance and support to organisations globally? - Whole Genome Sequencing diagnoses Malan Syndrome for Ben
The 100,000 Genomes project has seen some outstanding real-life impacts for people like Ben, aged five. We met with Ben’s mum Amanda to learn more about their story. Ben had… Read more: Whole Genome Sequencing diagnoses Malan Syndrome for Ben - Help us reduce turnaround times for genetic testing in cancerA national programme of work to improve turnaround times for genetic cancer testing has been commissioned by NHS England. The Central and South Genomic Medicine Service (C&S GMS) covering Wessex, the Thames Valley, and the West Midlands is seeking expert advisers for one PA a week for the six months from September 2024 to March 2025 to support this work in our regions.
- Birmingham Genomic Laboratory Hub awarded employment honourThe West Midlands Regional Genetics Laboratory (WMRGL), based at Birmingham Women’s and Children’s NHS Foundation Trust, has been awarded Employer of the Year by CSR Scientific Training for their outstanding work on apprenticeships.
- “That decision to get tested opened a giant can of worms, but it saved my family from any further loss.”Tracy Smith was diagnosed with Lynch Syndrome 20 years ago when she was 33 years old.
- People used to think I was a novelty because I was interested in genetics!Adam Shaw is a Clinical Geneticist and heads up the Genetics team at Guys & St Thomas’ Hospitals.
- Niche to Normality! Genomics for nurses, midwives and HCPsJoin us for an exciting online event on 29 February 2024, our third webinar designed specifically for nurses, midwives, and healthcare professionals (HCPs) interested in genomics. Discover how genomics is transitioning from a niche field to becoming an essential part of everyday healthcare practise.
- NHS Genomic Networks of ExcellenceIn October 2022, NHS England published Accelerating Genomic Medicine in the NHS, the first NHS genomics strategy. The strategy included a plan to establish ‘NHS Genomic Networks of Excellence’ as… Read more: NHS Genomic Networks of Excellence
- Transforming Patient Care: Workshop on Clinical Genomics for Monogenic Inflammatory Bowel Disease Held in Oxford
St. Catherine’s College, Oxford, known for its mid-century modernism and timeless design, provided an ideal setting to host a workshop that brought together clinicians and scientists from various disciplines to… Read more: Transforming Patient Care: Workshop on Clinical Genomics for Monogenic Inflammatory Bowel Disease Held in Oxford - Join the #GenomicsConversation 2023
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… Read more: Join the #GenomicsConversation 2023 - Genomics for the Daunted (overcoming obstacles)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,… Read more: Genomics for the Daunted (overcoming obstacles)
- Genomic testing fills in missing jigsaw pieces for familyA 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,… Read more: Genomic testing fills in missing jigsaw pieces for family
- Central and South Genomics Newsletter Issue 2
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… Read more: Central and South Genomics Newsletter Issue 2 - Usman’s storyA 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,… Read more: Usman’s story
- Leo’s story
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… Read more: Leo’s story - Monogenic Diabetes: Achievements and next stepsThis 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… Read more: Monogenic Diabetes: Achievements and next steps
- Central and South Genomics NewsletterSummer 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… Read more: <strong>Central and South Genomics Newsletter </strong><strong></strong>
- Ilona’s story
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 seeking feedback on Genomics services and strategy
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… Read more: NHS England seeking feedback on Genomics services and strategy - 2023 update of the National Genomic Test Directory: Deadline for applications 31 August 2022
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… Read more: 2023 update of the National Genomic Test Directory: Deadline for applications 31 August 2022 - Central and South hold Long Read event
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… Read more: Central and South hold Long Read event - Human Genetics and Genomic Medicine SeminarHuman 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… Read more: Human Genetics and Genomic Medicine Seminar
- Babies to get new test for eye cancer in the womb to save their sight
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.… Read more: Babies to get new test for eye cancer in the womb to save their sight