Featured news
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Genomic study helps detect baby’s rare growth condition
Baby Safi started treatment for a rare growth condition after participating in the Generation Study, a national genomic screening study
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Rare Disease Day (28 Feb) is nearly here
Rare Disease Day is a globally coordinated movement dedicated to rare diseases, striving for equity in social opportunities, healthcare, and access to diagnosis and therapies for people living with a rare disease.
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Genomics Primer4Pharmacy course
We have an exciting opportunity for those working in pharmacy in the East Genomics region (East Midlands and East of England) to attend a one day Genomics Primer4Pharmacy course.
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Public and patient involvement opportunities
Here are details of a couple of great opportunities for patients and the public in the East Midlands and East of England to get involved and help shape decisions about genomics in our region.
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National Cancer Plan launched
The National Cancer Plan, launched on 4 February 2026, sets out England’s next major phase of change to improve cancer outcomes over the coming decade.
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Leukaemia testing in Leicester helps patients to access tailored treatments
By offering IDH1 testing in AML, the lab are helping people to access targeted treatments sooner
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East Midlands study could pave way for new lung disease treatments
A study which academics claim is the largest and most diverse of its kind could pave the way for new potential lung disease treatments. The global study, led by universities in Leicester and Nottingham, linked more than 500 new genes to lung function for the first time.
Cystic Renal Disease workshop
We are running our fifth and final national online CRD workshop to share the outputs from the project.
Study Day: Genomics Education Through Case Studies
We're delighted to be hosting an online study day on genomics with Anglia Ruskin University's Faculty of Health, Education, Medicine & Social Care on Wednesday 12 July 2023.
Lynch Syndrome and me: Leanne's story
Leanne Barratt is mum to five-year old Jasper and works as a brand marketing manager at Next. She also has Lynch syndrome. This is Leanne’s story:
Genetic marker discovered for severe multiple sclerosis
A study involving Addenbrooke's involving more than 22,000 people with multiple sclerosis has discovered the first genetic variant associated with faster disease progression, which can rob patients of their mobility and independence over time.
#GenomicsConversation week 2023
Join the Genomics Education Programme (and us!) on social media from Monday 26 June 2023 for #GenomicsConversation week 2023!
Genomics BITE: Newborn Genomes Programme and our Generation Study
Hollywood actor and prostate cancer patient raises awareness of testing among black men
Actor Colin McFarlane has revealed that he has been diagnosed with prostate cancer, and is backing Prostate Cancer UK’s campaign to encourage men over 50 and Black men over 45 to get a PSA test, as a result of his experience.
Launch of QGenome across the East GMSA
We are delighted to announce the launch of QGenome across the East GMSA region. QGenome offers clinicians readily-accessible, evidence-based clinical guidance and a streamlined mechanism to instigate genomic investigations and onward referrals, where necessary. It is freely available on iOS, Android and Web apps.
Welcome to our new Lead Midwife, Joanne Hargrave
Last month we were delighted to welcome Joanne Hargrave who joined East Genomic Medicine Service Alliance (GMSA) as Lead Midwife. We put some questions to Jo, and you can read her answers below...
Milestone reached in pioneering brain cancer trial
More than 140 brain cancer patients have benefitted from a landmark NHS testing and treatment programme being trialled at Addenbrooke's, using the latest innovations in genomics and cancer research.
Rory's story: finding answers by genetic testing
Little Rory Cross is one of only 14 people in the world with Chitayat syndrome, a very rare genetic disease diagnosed only after genome sequencing.
Genomics study diagnoses thousands of children with rare disorders
An Addenbrooke’s consultant is playing a key role in a UK study, revealing genetic causes for rare developmental disorders in 5,500 children and helping to improve diagnosis worldwide.
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.
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.
CamRARE promotes diagnostic equity for all for Rare Disease Day
Originally published in the Cambridge Independent.
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”.
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.
New genetic testing clinic for children with hearing loss
A new clinic at Addenbrooke's is using genetic testing to help improve the treatment and care of children with hearing loss.
Whole genome sequencing reveals novel non cancerous tumour mutation
Genomic testing on a young child’s growing tumour proved it to be benign after traditional laboratory methods were unable to give a firm diagnosis. The sequencing analysis has led to the discovery of a new gene mutation which will help in the diagnosis of future patients with similar tumours.