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The SWAN and the diagnostic odyssey: how whole genome sequencing brought one family answers to decade-long questions
From the moment Sasha was born at home in Nottingham, her parents Lisa and Mat Gapp where aware that their first child had some differences.
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Blood cancer manipulates immune cells to survive
The most comprehensive study to date of the blood cancer, Hodgkin lymphoma, has provided fascinating insights into what tumour cells must do to survive.
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CamRARE promotes diagnostic equity for all for Rare Disease Day
Originally published in the Cambridge Independent.
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Newly developed genetic testing of tumours could mean ‘gift of life’ for family members
“It came out of a clear blue sky” recalls Andy. “It was ridiculous. I was such a fit guy. I’d done the Leicester marathon just a few weeks before”.
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Genomic testing capability ramps up at Leicester Laboratory
NHS East Genomics has increased its genomic testing capacity across the East of England and East Midlands by enabling its Leicester laboratory to carry out urgent cancer testing on site.
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Making a Difference: Genomics in Nursing and Midwifery Conference
A FREE conference aimed at nurses and midwives - across a wide range of roles and from 'ward to board' - working in the East Midlands or East of England. The conference will outline how genomics and genetic testing is helping patients in the East Midlands and East of England, the crucial role nurses and midwives are playing in embedding genomics into routine NHS care, and the role of East GMSA in supporting all of this.
Webinar: Harnessing the power of Clinical Nurse Specialists in the rollout of genomics
Organised by the East Genomic Medicine Service Alliance (GMSA) this webinar is aimed at clinical nurse specialists (CNSs) within Cambridge University Hospital NHS Foundation Trust (CUH), North West Anglia Foundation Trust, Royal Papworth Foundation Trust, Norfolk and Norwich NHS Foundation Trust (NNUH), James Paget Foundation Trust, Queen Elizabeth's Hospital King's Lynne Foundation Trust
New clues to treat germ cell tumours
A study by a team from Addenbrooke’s and the Wellcome Sanger Institute has revealed more about the origin of germ cell tumours, usually found in the ovaries and testicles, suggesting new approaches to future treatment.
Webinar: Lynch Syndrome Management
This webinar has been organised by the East Genomic Medicine Service Alliance (East GMSA). It is aimed at all clinicians, nurses, managers & coordinators in primary and secondary care who work with patients with Lynch Syndrome.
Rachel's story: Genomics helped me understand my cancer
Rachel Gilbert was diagnosed with gastrointestinal stromal tumours (GIST) aged 15 and says whole genome sequencing has provided vital answers for her and her family.
How is genomics changing pharmacy?
Genomics is starting to have a huge impact on pharmacy. Recently, genomics is being used to predict how an individual will handle specific drugs to reduce harm and improve outcomes.
Familial Cancer Specialists - a unique team supporting patients with suspected inherited cancer
Wendy Chorley is the Lead Familial Cancer Specialist at University Hospitals of Derby and Burton NHS Foundation Trust. She leads a team of five familial cancer specialists, most of whom are nurses or allied health professionals.
The role of genomics in midwifery
For Genomics Conversation Week 2022, Angela Crosby, Antenatal and Newborn Screening Coordinator, United Lincolnshire Hospitals NHS Trust (ULHT), talks about the role of her team and the impact genomics has in their work.
The importance of identifying patients with Monogenic Diabetes
For Diabetes Week (13 - 19 June), Anita Murphy, our regional Genetic Diabetes Nurse - East Midlands and East of England - has shared with us why it is important for clinicians to consider this type of diabetes when seeing patients and how it can change th
Nursing and midwifery team appointed to help peers across the region take a proactive role in genomic medicine
The recently appointed nursing and midwifery staff at East Genomics are an essential part of the strategic team to support the mainstreaming of genomic medicine into clinical practice across the East of England and East Midlands to help improve patient care and outcomes.
New genomic testing provides vital diagnosis for severely ill babies
Cambridge research suggests more than a third of severely sick babies given rapid whole genome sequencing have received a vital genetic diagnosis.
Largest study of whole genome sequencing data reveals new causes of cancer
Cambridge analysis of more than 12,000 tumours from NHS patients has found DNA evidence of over 50 new potential causes of cancer.
Revolutionary new treatment path for patients with aggressive brain tumours
Brain tumour patients at Addenbrooke’s Hospital in Cambridge are the first in the UK to benefit from personalised treatment using the latest advances in genomics and targeted therapies through the Minderoo Foundation's new Precision Brain Tumour Programme (MPBTP).
Genetic testing for Lynch syndrome help patients and clinicians fight cancer
Awareness of this inherited condition can help patients alert relatives to get tested and it can also ensure suitable screening and preventative treatment for future cancers
With a history of cancer in the family, Marla's story highlights how a Lynch syndrome diagnosis has helped her
Marla explains how she can look forward and concentrate on the prevention of cancer for herself and her family since her Lynch syndrome diagnosis
Genetic study gives new insights into severe Covid
The world’s largest genetic study of critically-ill Covid patients, involving more than 200 treated at Addenbrooke's, reveals extensive insights into the disease.
Family share Eilidh's story on Rare Disease Day
Raising a child with a rare or little understood condition is a major challenge for parents.
E-learning modules launched to help clinicians across the region order genomic tests for patients
Clinical Geneticists and Genetic Counsellors at Cambridge University Hospitals (CUH) have developed several short e-learning modules to help healthcare professionals across the East of England and East Midlands offer genomic testing to patients.
Cambridge clinician wins funding to safely link big datasets to help find medical answers
Cambridge researchers are to trial methods of analysing data across more than one secure research environment – something which has previously not been possible, but which could be of great benefit to the public once established.
Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients, according to world first study
A world-first scientific study has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases investigated to date