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| Cambridge Lab team nominated for Trust award | |
Congratulations to our Cambridge Laboratory team who have been nominated for a CUH You Made a Difference award by a community paediatrician from Bedford. The nomination notes the "exceptional service" provided by team who are "always very helpful with queries...I can't thank them enough for how helpful they are".
If you would like to nominate any of our Genomics Laboratories, Clinical Genetics teams or other mainstream staff or teams supporting genomics for a Trust recognition award, you can do so at Cambridge University Hospitals, University Hospitals Leicester, Nottingham University Hospitals and Norfolk and Norwich University Hospitals.If you are based at another Trust in our region search your Trust website or intranet for 'staff awards' to find out more. | |
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| NHS Genomics Healthcare Summit | |
The NHS Genomics Unit have announced that the 2025 NHS Genomics Healthcare Summit will be held across two days on Monday 15 December and Tuesday 16 December 2025 in London. We will share further details, including the programme and registration link, on our website, social channels and in next month's newsletter.
The NHS Genomics Healthcare Summit provides a space to explore the latest advances in genomic medicine and science and its application in clinical care as well as plans to advance genomics-enabled healthcare for the benefit of NHS patients. It also provides a key opportunity for networking, knowledge-sharing, collaboration and the development of innovative solutions. If you have any questions, please email england.genomics@nhs.net.
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| Hundreds of people set to benefit after life-extending lung cancer treatment recommended by NICE | |
People with an aggressive form of lung cancer are set to benefit after NICE today recommended a new, life-extending immunotherapy.
Durvalumab, also known as Imfinzi and made by AstraZeneca, is recommended in final draft guidance for adults with limited-stage small cell lung cancer (SCLC). This is where the cancer is contained in a single area on one side of the chest and has not progressed following initial treatment with chemotherapy and/or radiotherapy.
SCLC is an aggressive disease that grows rapidly and spreads quickly to other areas of the body. In most people diagnosed with SCLC, the cancer has already metastasised. But in about 30% of people, the cancer is contained in a single area that can be treated with radiotherapy. This is known as limited-stage SCLC.
Symptoms can include breathlessness, coughing up blood, chest pain and weight loss. There have been limited advances in the treatment of limited-stage SCLC for over 20 years, and there are currently no maintenance treatments available after chemotherapy and radiotherapy. Find out more.
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| Places announced for National Neighbourhood Health Implementation Programme | |
A key focus of the Government's 10 Year Plan for the NHS is Neighbourhood Health Services, which will support prevention of disease through the use of technology and genomic insights. By 2035 the ambition is to incorporate genomic data, digital tools and technology and a single patient record supplemented by advances in genomic data, to enable personalised predictive care. Training of new Genomics Champions in the neighbourhood, in conjunction with the NHS Genomic Medicine Service, will aim to increase the uptake of genomic testing and adjust neighbourhood skill mixes to reflect genomic data.
The 43 Places joining wave one of the National Neighbourhood Health Implementation Programme (NNHIP), covering at least one Place in every new ICB footprint, have been announced. In our region this includes North East Essex, Ipswich and East Suffolk, Leicestershire (West), Nottingham City, and Fenland, Peterborough and East, Peterborough.
Each of the sites will be allocated a national coach who will work with them to accelerate neighbourhood health for their local population and spread learning, with an initial focus on improving outcomes for adults with long term conditions and rising risk. Support is available via a new national community of practice, with all Places encouraged to join.
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| Cambridgeshire GP Practice first in our region to recruit patients to pharmacogenomics project | |
A GP Practice in Cambridgeshire is the first in our region to take part in a national project which is looking to establish the feasibility of providing an NHS-wide diagnostic service to identify genetic changes associated with commonly prescribed drugs.
The Pharmacogenetics Roll Out – Gauging Response to Service study, or PROGRESS for short, is using pharmacogenomics to examine how an individual's genetic makeup influences their response to medications.
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Dr Malav Bhimpuria (pictured), Lead GP at the Alconbury and Brampton Surgeries in Cambridgeshire, began recruiting patients to the project after contacting Professor Bill Newman, who is leading this national project on behalf of the NHSE Network of Excellence in Pharmacogenomics and Medicines Optimisation. | | | |
Dr Malav says: “So far we have recruited 90 patients. Half of our patients have had their prescriptions altered thanks to a more precise genetic understanding of how they respond to their medications. We have been able to reduce people’s dosage and even start patients on a new, more appropriate medication.
"A key challenge for the NHS is to go from a model of treatment to one of prevention. The personalised insights generated by pharmacogenomic testing are key to this, as they allow us to make personalised and tailored treatment decisions for patients”. Find out more here. | |
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| Genomics Conversation Week 2025 | |
The eighth annual #GenomicsConversation campaign will take place from 3 - 7 November 2025, helping healthcare professionals discover more about genomics and what it means for them, their practice and their patients.
This year, the week will focus on creating connections in genomics. That might mean finding out how to get support in your genomics learning journey, exploring ways to delve into the subject with colleagues, or understanding how to talk about genomics with patients. Here's a run-down of the daily themes: - Monday 3 November - Creating knowledge connections
- Tuesday 4 November - Creating connections with colleagues
- Wednesday 5 November - Creating connections with patients
- Thursday 6 November - Creating connections with the genomics community
- Friday 7 November - Creating connections with fellow genomics learners
Would you like to showcase your role or service, highlight your work with patients, or talk about successfully embedding genomics locally? If so please do get in touch with our Communications Lead Ian Kingsbury who can help support this, including linking in with your own Trust Comms team.
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| Roundup of Oct/Nov awareness dates | |
There are a number of health awareness dates in September and October linked to genetic conditions and genomic testing. Below we have listed some of these, along with links to further information, as well as any associated test codes in the National Genomic Test Directory (R=rare, M=cancer, or with a reference to a group of tests in the e.g. Part IX). The list is not exhaustive, and we have focussed on conditions currently included in the NGTD. For Rare and Inherited Conditions, see the Rare and Inherited eligibility criteria document on this page. | |
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Looking ahead to Black History Month in October, here's a round-up of some genomics events and training on specific healthcare issues affecting the Black community: - Diagnosing breast cancer in Black women is available on the RCGP website for any healthcare professional to register for free. It takes 30 minutes and explores the risk factors that affect Black women and potential barriers to diagnosis. Sign up for a free RCGP account here.
- Also available is the sickle cell disorder national education programme, a comprehensive e-learning course focusing on improving clinical knowledge of sickle cell disorder. Simply register for a free account or log into on the NHS Learning Hub to get started.
- On Thursday 30 October NHS England South East and Kent and Medway Local Maternity and Neonatal System is hosting a webinar focused on tackling neonatal health inequalities affecting Black communities. The event brings together clinicians, researchers, commissioners, parents and community advocates to share data, amplify community voices and explore evidence-based, culturally responsive interventions. Register for your place.
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| Updates from the Genomics Education Programme | |
Dermatology professionals now have access to a new set of useful resources to support their use of genomic testing in patient care. The collection is the 12th specialty featured on GeNotes (genomic notes for clinicians), a free online resource co-produced with NHS clinical specialists. GeNotes also covers a wide range of other clinical specialties - you can find the full list on the GeNotes homepage. Are there any conditions or topics that you’d like to see in GeNotes? If you think your speciality should be included, or you’re interested in getting involved, please contact the Genomic Education Programme.
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| Have you tried the QGenome app? | |
QGenome is an app-based clinical decision navigator for healthcare professionals which highlights the relevance of genomics at specific ‘decision points’ during a patient’s care. The app provides suggestions, in line with evidence-based best practice, as to when genomic testing may be necessary to guide clinical management and signposts to appropriate risk-reduction interventions.
Intended as a ‘point of care’ tool for all clinicians working across primary, secondary and tertiary care, the app is aligned to the National Genomic Test Directory, with quick links to genomic test request forms, record of discussion forms, national guidance and published literature. Current specialty areas covered by QGenome include Cancer, Renal, Cardiac, Prenatal and Primary Care.
Developed by North Thames Genomic Medicine Service in collaboration with NHS clinicians across the country, QGenome is already helping thousands of busy clinicians bridge the overlap between common conditions and rare diseases and is available on iOS and Android devices and as a web app. Find out more. | |
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| Patient information/experience updates | |
Glucokinase hypoglycaemiaRaised blood glucose can be caused by a change in the Glucokinase (GCK) gene. The national GCK project team have produced patient information leaflets for people who have had genetic test which has shown that they have a change in the GCK gene (this is called glucokinase hyperglycaemia). | | | |
Glucokinase hypoglycaemia is not diabetes and is not known to cause long term health problems. In terms of pregnancy, there is no need for further care from a diabetes service after the pregnancy. People with a change in the GCK gene have the same risk of developing Type 2 diabetes as other members of the general population.
You can download the following GCK patient information leaflets: If you would like to discuss having these rebranded for your Trust, please contact Ian Kingsbury: i.kingsbury@nhs.net | |
Cancer and genetic testing patient information leaflets Our East region Patient Information Leaflet Group have produced new resources for cancer patients to help them understand the role of genetic testing: | | | |
The group brings together colleagues from our regional Clinical Genetics Services and mainstream Trust services to standardise and share genomics-related patient information leaflets (PILs) across the East Midlands and East of England. If you would like to know more about PILs, please contact Ian Kingsbury: i.kingsbury@nhs.net | |
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The latest episode of The Road to Genome podcast features Dr Ricard Scott, Chief Executive of Genomics England, and explores GEL's work on rare disease, including the Generation Study.
Genomics England’s Behind the Genes podcast explores how the Generation Study is brought to life - from posters in waiting rooms to midwife training. We follow the journey of parents joining the study at the very start of their baby’s life, and hear from those making it happen on the ground. Listen here or wherever you get your podcasts.
The latest episode of the Medics For Rare Disease podcast features Dr. Lisa Kaufman, a Consultant Community Paediatrician, Associate Medical Director, and Communication Skills Trainer with Manchester Local Care Organisation. Lisa shares her insights around what it really means to listen well, how we can improve understanding across roles, and why simple communication habits can make all the difference in complex healthcare settings.
Consultant Clinical Geneticist Julian Barwell recently featured on the Breast Cancer Uncovered podcast to discuss the role of genetics in breast cancer, high-risk genes such as BRCA1 and BRCA2, the importance of knowing family history, and the misconceptions surrounding genetic inheritance. | |
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| Pioneering breast cancer programme opens in more hospitals across the East | |
Patients who join the Personalised Breast Cancer Programme, which was pioneered at Addenbrooke's Hospital in Cambridge, have their DNA read like a barcode, with the whole genome of their tumour sequenced and the results returned to inform treatment.
Funded by Cancer Research UK, the ground-breaking Personalised Breast Cancer Programme (PBCP), that could potentially save thousands of lives, has now opened at the James Paget University Hospital NHS Trust in Great Yarmouth and at Milton Keynes University Hospital NHS Foundation Trust.
This means more people in the East are set to benefit from personalised treatment, as access to the programme is expanded. The James Paget Hospital is the fifth site in the East and the Milton Keynes University Hospital is now the seventh site to be opened nationally following on from the implementation of the programme in Cambridge, Ipswich, Colchester, Norwich, Oxford and Great Yarmouth.
So far, nearly 1,800 patients have been enrolled in the study. Results are returned within six to 12 weeks, enabling patients to have a more precise and personalised cancer treatment. For many people, results so far have confirmed they were receiving the best treatment available for their disease, whilst over a third have had a change in clinical management.
Professor Jean Abraham, who leads the PBCP from Cambridge University Hospitals NHS Foundation Trust (CUH), explained that for every patient on the programme DNA and RNA readouts from their tumour cells are compared with those of their healthy cells to study which genetic mistakes are causing the disease, and which weaknesses could be targeted with cancer drugs....Read the full story here. | |
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| Supporting approved researchers to access data in a secure and ethical way | |
Airlock is a secure gateway used for moving data into and out of the Genomics England Research Environment. The Research Environment, sometimes shortened to ‘RE’, hosts the National Genomic Research Library: a secure database that holds de-identified genomic and health data from participants.
Using the Research Environment, approved scientists can gain access to this data, allowing them to conduct valuable research in cancer and rare conditions. Airlock is essential in this process, ensuring that all transfers of data comply with participant consent, ethical standards and data protection regulations.
A researcher may request to “export” data out of the RE, in order to be able to publish it to the wider world. They may also request to “import” data into the RE, as reference material and/or to analyse it alongside other data in the National Genomic Research Library. Read more about Airlock on the Genomics England website. | |
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| Research changing lives for family devastated by rare genetic kidney disease | |
Two sisters from Devon have escaped a lifetime on dialysis, thanks to research which has improved treatment options for the genetic kidney disease which killed their grandad and aunt.
Janette Murch, a 41-year-old who works in dairy farming, and her younger sister, Rosalyn, inherited a genetic fault, causing a rare kidney condition - Atypical haemolytic uraemic syndrome (aHUS). A little over a decade ago, dialysis was the only option to treat their kidney failure. However, medication introduced by the NHS in 2015 has transformed lives.
The breakthrough of treating aHUS with eculizumab was made by Professor Tim Goodship and his team at Newcastle University, with funding from Kidney Research UK. They found that infusions of this medicine prevent aHUS from attacking the kidneys, helping to restore and protect kidney function.
Despite this significant advancement, living with aHUS is still challenging and this causes Janette anxiety for the future of her two sons, aged seven and nine, who have also inherited the genetic fault.
Janette says: “aHUS is a very rare condition, but it’s common in my family. My grandad was on dialysis three times a week before he died, and my aunt died in her late thirties after the condition caused her transplant to fail. It’s amazing that 25 years later, there is now medication to protect our kidneys. It isn’t pleasant but we are lucky to have it." Read the full story here. | |
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| Study reveals delays to type 2 diabetes diagnosis in Black and South Asian men | |
A recent study has revealed that a common but often undiagnosed genetic condition, G6PD deficiency, could be significantly delaying type 2 diabetes diagnosis for thousands of Black and South Asian men in the UK.
The study, led by researchers at University of Exeter and Wolfson Institute of Population Health (QMUL), shows that around 1 in 7 Black men and 1 in 63 Asian men in the UK carry the G6PD deficiency genetic variant. While the condition itself doesn’t cause diabetes, it interferes with the HbA1c blood test – the standard diagnostic tool for diabetes – by making the test results appear artificially low. This misleads both doctors and patients, often resulting in delayed diagnosis and treatment.
On the average, men with G6PD deficiency are diagnosed with type 2 diabetes four years later than those without the genetic variant. But even more concerning, fewer than 1 in 50 men with this condition have been diagnosed. The research also found that these men are at a 37% higher risk of developing severe diabetes-related complications, such as eye kidney and nerve damage compared to other men with diabetes.
Veline L'Esperance, GP and WIPH Senior Clinical Research Fellow, said: “These findings are deeply concerning because they show how a widely used diagnostic tool may be failing communities that are already disproportionately affected by type 2 diabetes. Too many people are being left undiagnosed until it is too late to prevent serious complications. We need greater awareness among healthcare professionals and stronger policies to ensure equitable screening and diagnosis.”
To combat these disparities, the team is launching the Black Health Legacy initiative, set to become the largest health research programme dedicated to addressing diseases that disproportionately affects Black communities. Find out more. | |
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| Patients in Gene Therapy study for Huntingdon's experience 75% less progression of the disease | |
A company called uniQure has announced promising results from a trial of a new gene therapy for Huntington’s disease. Huntington’s disease is a fatal brain disorder that runs in families, caused by a faulty gene that produces a protein called huntingtin. The disease typically begins to cause symptoms in people between 30 and 50 years old.
In the study, neurosurgeons delivered the treatment called AMT-130 directly into the brain using precise surgery guided by MRI scans. They targeted the striatum – the brain region most damaged by Huntington’s disease. AMT-130 uses a modified virus to carry genetic material that can reduce the amount of harmful huntingtin protein in brain cells. Scientists believe this faulty protein plays a key role in causing the disease.
The results showed that patients who received the high dose of AMT-130 (12 people) experienced significant benefits. The treatment appeared to slow disease progression by 75% over 36 months, compared with a carefully matched group of patients who didn’t receive the therapy and were from another study that investigates how the disease develops over time. Read the full story on the BBC website and an analysis piece in The Conversation. | |
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| Opportunities for patients to get involved | |
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Events, education and training | | |
| Recordings of webinars and training sessions | |
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| Upcoming Communities of Practice | |
Here are some upcoming meetings, with registration links, for our Genomics Communities of Practice: | |
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| 8 Oct: Genomics and Epilepsy | |
This webinar (1pm - 2pm) will explore the genomic link in epilepsy and which patients are eligible for genetic testing. This is a fantastic opportunity to learn more about genetic testing for epilepsy and how it can benefit your patients and their treatment.
Everyone s welcome from all regions, particularly colleagues working in neurology (including nurses) or general medics who may see epilepsy patients in their practice. Register your place here. | |
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| 13 Oct: National Genomics Lunch & Learn series | |
Next up in our series of national Genomics Lunch and Learn webinars is a session on 13 October which will focus on Genomics in Newborn Screening: The Generation Study. Register your free place here.
These 45 minute webinars are free to attend and is aimed at anyone working in healthcare wanting to learn more about the application of genomics to their clinical practice. You can also see our website here for recordings of previous sessions. | |
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| 13 Oct: NHS Genomic AI Network Showcase | |
Join South East Genomics for their annual showcase from 1pm - 4pm, where the NHS Genomic AI Network will present its latest work. This event will highlight how artificial intelligence is being applied to transform genomic medicine in the NHS. Find out more and register your place here. | |
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| 15 Oct: NHSE Pharmacy and genomics-informed medicines optimisation webinar | |
This session will build on the previous webinar and its introduction to areas in genomics-informed medicines optimisation. After a short recap of the previous webinar, participants will have the opportunity to join a breakout room covering a specific topic from one of these areas where they can discuss how genomic testing may influence future practice and consider enablers and barriers to advance their own professional practice and delivery of services to patients. Register here. | |
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| 16 Oct: Metagenomics in the NHS
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Metagenomics is a rapidly expanding area as a diagnostic tool for infections. It bypasses the need to grow individual microbes in a lab by analysing the genetic material from all microbes in a human sample, including bacteria, viruses and fungi. It’s already being used in the NHS as a diagnostic tool for respiratory patients and for people with brain or central nervous system infections. Find out more and register your place. | |
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| 17 Oct: East region Pharmacy Working Group Forum | |
Join our Pharmacy Leads Paul Selby and Aris Saoulidis on Friday 17 October at 10.30am for updates on the PROGRESS study (see above), outcomes from collaborative research with the University of Cambridge and regional workforce plans. Email Paul to request the meeting link:paul.selby@nhs.net | |
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| 21 Oct: Pharmacogenomics in Action: Genomics Informed Medicines Optimisation Summit | |
21 October 2025 , 09:30-16:00, The Futures Inn, Bristol Are you a pharmacist or prescriber looking to learn more about pharmacogenomics and genomics informed medicines optimisation? Central and South Genomics and the South West Genomic Medicine Service are holding a one day educational summit on genomics informed medicines optimisation. The day will include: Introduction to Pharmacogenomics & genomics informed medicines optimisation Pharmacogenomics in practice and horizon scanning Interactive workshop(s) PROGRESS study & Clopidogrel pilot (Prof Bill Newman) DPYD Signposting to educational resources/opportunities
If you’re interested in attending the summit, please click here to learn more and complete the application. Please direct questions to Vicki Geddes (Central and South) and Sharon Thompson (South West). | |
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| 22 Oct: Regional Midwives in Genetics and Genomics (MiGGS) Network | |
Join our Regional Midwives in Genetics and Genomics Forum at 12pm on Wednesday 22 October for An overview of Adult Congenital Heart Disease / Inherited Cardiac Conditions and care in Pregnancy and beyond. Register your place here.
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| 22 Oct: Advancing Cancer Care through Genomics | |
Cancer is affected by our genetics in many different ways. Multiple cancers can be influenced by our genes and the effectiveness of cancer treatment can vary according to our DNA. The healthcare environment has responded to emerging research findings by offering new testing options and innovative therapies based on the results of genetic testing. To raise awareness of the importance of genomics in cancer diagnosis and treatment, Central and South Genomics is hosting a webinar on the genomics of cancer. Attendees will hear from a panel of experts outlining the connection between genomics and cancer, the patient experience, cancer vaccines, screening options and much more. Find out more and register. | |
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| 4-5 Nov: Respiratory Genomics Conference | |
Registration is now open for a two-day Respiratory Genomics Conference taking place in Leicester, 4-5 November 2025. You can find further information, including speaker biogs here. You can register for the conference, and indicate whether you intend to submit an abstract, here. If you’d like to submit an abstract for pre-screening before you commit to registration, please contact: respiratorygenomics@leicester.ac.uk | |
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This year the event takes place 5-6 November in Birmingham and is free to attend. Nurses can take the opportunity to gain CPD hours, visit exhibitor stands and the Compassion Café. A collaboration of several of the Genomic Medicine Service Alliances Lead Nurses will have a stand at this event whilst our Lead Nurse, Anita and her colleague from North Thames GMSA, Liz Bancroft will be presenting with a focus on Prostate Cancer, Monogenic Diabetes and the impact Pharmacogenomics will have on the nursing workforce. Register your place here. | |
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| 5 Nov: BGSM Annual Conference 2025 | |
Registration for the BSGM annual conference 2025 taking place at the Royal College of Physicians on 5 November, 2025 is now live. There is an excellent programme of invited speakers and submitted abstracts with poster submissions, including sessions on Dark Genome, Prenatal Genetics and 'clinical trials: How are they run, do they work and do patients want them?' BGSM members can book here, while non-members can create a free account in mySociety to book. | |
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| 6 Nov: Cambridge Rare Disease Network RAREsummit25 | |
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| 10 Nov: Haemato-Oncolgy Symposium | |
Join our colleagues at the North East and Yorkshire Genomic Medicine Service Haemato-Oncology Symposium 2025. Taking place on the 10 November 2025 12:30-17:15pm, the symposium is intended for an NHS audience, and will include three sessions:- HaemOnc service updates
- HaemOnc WGS
- HaemOnc Projects and Innovations
You can view the agenda here, and register your place here. | |
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| 13 Nov: NHS Pharmacogenomics Network of Excellence event | |
The Whitworth Art Gallery, Oxford Road, ManchesterJoin leading voices in genomics, pharmacogenomics and healthcare to shape the future of personalised medicine. Topics discussed will include co-designing an Adult Population Genomics Programme, PGx and childhood asthma, advancing the integration of pharmacogenomics, opportunities and challenges in medicines optimisation and pharmacogenomics, and a workshop on MHA Centres of Excellence for Regulatory Science and Innovation (CERSIs). Register your place. | |
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Frank Lee Centre (Hexagon Room), Cambridge Biomedical Campus, 4pm - 7pm | |
Join three Cambridge researchers who have specialised in research in infants, children and young people to hear how research is changing the way we diagnose and treat health conditions that emerge in the early years, setting the stage for healthier outcomes.
There are two sessions (talks are repeated with a new audience) – either in the afternoon (4-5pm) or evening (6-7pm) so, you only need to book one session. Find out more and book your ticket on Eventbrite. | | | |
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| 20 Nov: Genomics for Primary Care Practitioners | |
Central and South Genomics is hosting a one day (9am - 5pm) Genomics for Primary Care Practitioners course at the University of Birmingham Medical School. This event will give participants a better understanding of the significance of genomic medicine for primary care patients. | |
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| 4 Dec: UKCGG Winter Meeting | |
Please save the date for the United Kingdom Cancer Genetics Group (UKCGG) Winter Meeting on Thursday 4 and Friday 5 December 2025. The meeting will take place over two morning sessions and will be held virtually via Zoom. Further details and registration will be available soon, and shared via this newsletter. You can find out more about the UKCGG on their website. | |
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| Events calendars of other organisations (A-Z) | |
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New on our website:
Genomic Testing: | | Useful links and resources | | | |
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- Enquiries regarding any specific genomic tests should be directed to East Genomic Laboratory Hub (East GLH) at cuh.geneticslaboratories@nhs.net
- Enquiries in relation to projects, mainstreaming, pathway development and wider education, training and and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at egmsa@nnuh.nhs.uk
To share future newsletter content or suggestions please email Ian at i.kingsbury@nhs.net.
If you have been forwarded this email by a colleague and would like to be on our mailing list, please register here. | |
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If you would like to unsubscribe to these newsletters please email us | |
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