Featured news
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Addenbrooke's patient first in Europe to receive treatment for rare genetic disease
Mary Catchpole will be able to take one tablet twice a day to control the effects of her illness
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Taking the fear out of Down Syndrome
When Sarah-Jane gave birth to Hannah with Down Syndrome, almost eight years ago, it was a shock for her and her husband, Sean, but now looking back it turned out to be less frightening than she first felt it would be.
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Join our national Lunch & Learn series
Genomics is transforming healthcare - and it’s no longer a niche subject. From diagnosis to personalised treatment, genomic knowledge is becoming essential across all clinical roles.
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Important change to requesting diagnostic cancer genetic testing (inherited cancers)
The eligibility criteria for diagnostic cancer genetic testing have significantly broadened in recent years, which has many benefits for patients and clinicians. But it also means that the East Anglia Clinical Genetics Service (CGS) no longer has the capacity to facilitate this type of test.
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Rare Chromosome Disorder Awareness Day 2025
Rare Chromosome Disorder Awareness Day 2025 is being observed on Thursday, 19 June 2025, bringing together families, advocates, and healthcare professionals to highlight the unique challenges and remarkable resilience of those living with rare chromosome and gene disorders.
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Improving efficiency and appropriateness of genomic test requests
To ensure that patients continue to benefit from genomic testing in the current context of increased NHS financial pressures, it is important for us all to work together to maximise benefits for patients.
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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
Whole Genome Sequencing helps doctors treat Daniel’s rare cancer
Sport-loving schoolboy Daniel is back on the football pitch following precision treatment of a rare kidney tumour
Serena Nik-Zainal wins top prize for ground-breaking research into cancer
Professor Serena Nik-Zainal has been announced as the winner of the 2021 Foulkes Foundation Academy of Medical Sciences Medal
Regional Genomics Survey - deadline extended!
Regional survey launched to gain insight into healthcare professionals knowledge and use of genomic testing
National Genomic Test Directory update
On 4 October, updates to the National Genomics Test Directory were made live on the NHS England website.
National blood tube shortage
Due to the national blood tube shortage, all NHS Trusts are requested to continue to reduce testing by 25% until Friday 8 October.
Multi-award winning Jean-Christophe Novelli reveals how genomic testing helped his family
Jean-Christophe Novelli and his wife Michelle spoke today at East GLH of how genomic testing for their son Valentino helped them find the right treatment and plan their future life.
East GLH ready to deliver higher volume of rapid genomic testing
We are extremely proud to have now completed major building works at our lead laboratory based at Cambridge University Hospitals NHS Foundation Trust which will help us deliver an enhanced genomic service for the East of England and East Midlands.
Genome sequencing hope for families seeking diagnoses and treatment for rare disease
Thanks to whole genome sequencing, doctors were able to diagnose Eleanor quickly