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?
The Southampton Imprinting Group (SIG) is a four-way collaboration between NHS diagnostics at Wessex Genomics Laboratory Service, hosted by Southampton University Hospitals NHS Foundation Trust, basic science research, clinical research and NHS clinical care. The team manages patients every step of the way, from specialist testing pathways sitting outside of standard next-generation sequencing to bespoke clinical management.
Imprinting is the differential marking of specific DNA sequences, which does not change these DNA sequences, but causes only the copy inherited from one parent to be used. Errors in this differential marking cause imprinting disorders, which affect about 1 in every 3000 to 5000 people. Patients often present with complex clinical problems, requiring personalised management and treatment. Imprinting disorders are not fully understood at present, and not widely understood across the NHS; patients are often under- or mis-diagnosed, and cannot always access the precision management they need.
Through patient-based research, SIG has discovered new molecular mechanisms of disease, described three new imprinting disorders, and led on three international clinical consensus actions. Beyond this impactful research, the team connects with other research and NHS teams to share learning, build the knowledge base and improve patient outcomes. Bringing together specialisms covering clinical genetics, paediatric endocrinology, paediatric dietetics, molecular genetics, bioinformatics, metabolomics, diagnostics and clinical research, they offer research and NHS clinics, providing the correct diagnosis to patients at an early age, and enabling the best management to maximise patient outcomes. The group’s patients and projects derive from the deep collaboration with diagnostic scientists in WGLS, as well as clinical referrals welcomed from all NHS centres, but the team find they are increasingly contacted by patients directly.
Gabriella Gazdagh, the SIG Clinical Genetics Lead, told us: “We hear from patients from all over the country, and people often travel a long way to be seen.
“Recently, we were contacted by a patient based in Scotland who had been struggling to get the right support. They contacted a support group in the USA who referred the patient to us.
“We see this quite regularly – patients and caregivers often present to us due to an unmet need for a diagnosis and treatment.”
Recently, SIG was awarded a significant grant from the Medical Research Council to study the impact of changes in imprinting across the genome. The research, named StratifID, funded until 2026, is recruiting patients with specific imprinting changes (IC1/IC2 LoM), with the aim of delivering one-tube next-generation sequencing at PCR cost, patient testing pathways, improved clinical recognition and referral, and more complete diagnoses in future.
To learn more about imprinting disorders and the service itself, please click here.