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Dr Elizabeth Smyth

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

22 Mar 2022, 12:28 p.m.

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

22 Mar 2022, 12:27 p.m.

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.

7 Mar 2022, 6 p.m.
Vaila and daughter Eilidh

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.

28 Feb 2022, 1:55 p.m.
Genetic Testing for Inherited Cardiac Conditions graphic

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.

31 Jan 2022, 1:46 p.m.
Serena Nik-Zainal

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.

13 Jan 2022, 2 p.m.

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

10 Nov 2021, 5:04 p.m.
Extraction of DNA at East GLH

Pilot study reveals the benefits of ‘whole genome sequencing’ for children with cancer

Study of 36 children treated at Cambridge University Hospitals NHS Foundation Trust has shown that whole genome sequencing can give a more accurate diagnosis or reveal new treatment options

8 Nov 2021, 9 a.m.
Case study image

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

5 Nov 2021, 2:40 p.m.
Serena Nik-Zainal

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

3 Nov 2021, 8:54 a.m.
Regional survey image

Regional Genomics Survey - deadline extended!

Regional survey launched to gain insight into healthcare professionals knowledge and use of genomic testing

29 Oct 2021, 4:32 p.m.
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.

11 Oct 2021, 1:39 p.m.
Blood tubes

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.

29 Sep 2021, 9:34 a.m.
Jean-Christophe Novelli and his wife Michelle visit East GLH

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.

30 Jul 2021, 3:54 p.m.
Works and investment aid high volume throughput

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.

12 Jul 2021, 9 a.m.
Family success with genomic testing

Genome sequencing hope for families seeking diagnoses and treatment for rare disease

Thanks to whole genome sequencing, doctors were able to diagnose Eleanor quickly

12 Jul 2021, 9 a.m.