News and Events

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

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.

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.

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.

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.

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.

EVENT: Regional Midwives in Genetics and Genomics Network (RegMiGGs.net)

The next meeting of our Regional Midwives in Genetics and Genomics Network (RegMiGGs.net) takes place on Wednesday 16 July at 1pm.

Genetic blood tests could revolutionise cancer care

Liquid biopsy tests are now available for certain lung and breast cancers

New genetic test can diagnose brain tumours in as little as two hours

Scientists and medics have developed an ultra-rapid method of genetically diagnosing brain tumours that will cut the time it takes to classify them from 6-8 weeks, to as little as two hours – which could improve care for thousands of patients each year in the UK.

International Nurses Day 12 May 2025

Monday 12th May 2025 is International Nurses Day. Below we highlight the important role nurses play in genomic medicine, as well as some events and links to further information and support.

Newborn babies tested for over 200 genetic conditions as world-leading study begins at NNUH

Newborn babies can now be tested for over 200 rare genetic conditions as the Norfolk and Norwich University Hospital (NNUH) joins a world-leading research study in NHS hospitals that aims to screen up to 100,000 newborns in England.

International Day of the Midwife - 5 May 2025

Monday 5th May 2025 is International Day of the Midwife. Below we highlight the important role midwives play in genomic medicine, as well as some events and links to further information and support.

QGenome now offering more support to busy clinicians

QGenome is a practical digital tool which helps busy clinicians apply genomic referral, risk assessment and testing guidance within a clinical setting.

My CUH Story - Gloria Anyaegbu

14 March 2025 is National Cancer Clinical Nurse Specialist (CNS) Day! To celebrate, we spoke to Gloria, clinical nurse specialist in children, teenager and young adult genomic medicine.

Haemophilia focus at our April Regional Midwives in Genetics and Genomics Network meeting

Our Regional Midwives in Genetics and Genomics Network (RegMiGGs.net) brings together regional midwifery professionals, educators and those in specialist roles that support the embedding of genomics in maternity services.

Labrador genetic research reveals new human obesity genes

Similar genes contribute to risk of obesity in both dogs and humans. Diet and exercise can help prevent obesity, but it is harder for those with high genetic risk.

Update on simplification of genomic testing for developmental disorders

We're implementing changes to simplify the ordering of tests for developmental disorders

Pilot to permanent: how a hub service for identifying people at risk of familial hypercholesterolaemia got up and running

Over 90% of the world’s oceans remain unexplored. But before grabbing scuba gear, consider that in the UK, the same percentage of people with Familial Hypercholesterolaemia (FH) – a genetic condition that makes cardiovascular disease nine times more likely (1) – remains undetected (2). Affecting 1 in 250 people (approx. 240,000 in the UK (3)), improving FH detection represents an important opportunity to help prevent cardiovascular disease (CVD).

Rare Disease Day 2025 is coming!

As Rare Disease Day approaches on Friday 28th February, we wanted to take this opportunity to highlight the significance of this day, and signpost to some ways you can show your support and get involved.

Hypothalamus map gives new insight into genetics of obesity

This "Google Maps of the brain" could help researchers find new treatments for metabolic conditions.