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Polycystic renal disease: Moaeed and Hina’s story
We are extremely grateful to Moaeed and Hina for sharing their story of how Autosomal Recessive Polycystic Kidney Disease (ARPKD) has affected them and their family. As a note to readers, the article contains themes of miscarriage and infant death.

Welcome to Loretta, Karine and Helen
Following a recruitment drive, last month we were delighted to welcome three new members of our Public and Patient Voice (PPV) Panel. Read more about Loretta, Karine and Helen in their own words below.

Genomics BITE: Genomic testing for fetal anomalies with a likely genetic cause
Our Genomics BITE session for September 2023 is aimed at midwives, health visitors, neonatal and paediatric nurses and anyone who is interested in finding out more.

Cambridge researchers launch national DNA research programme
Cambridge researchers launch the world’s first national childhood DNA health research programme, to help transform healthcare for children and young people.

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.

Training session: Paediatric Genomic Practioners in NICU, PICU and Neurology
On 14 June we’re holding a short Genomics BITE session for nurses and midwives entitled 'Paediatric Genomic Practitioners in NICU, PICU and neurology'.

Monogenic Diabetes - BITE-sized learnming session
Tuesday 23 May 2023 | 12:45pm - 1.30pm | MS Teams

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.

Register your free place for our Genomics Showcase event in May
Registration is now OPEN for our Genomics Showcase on Thursday 4 May 2023 in Peterborough.