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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.
New Year Honours for Cambridge clinicians
Two New Year Honours have been awarded to clinicians at Cambridge University Hospitals NHS Foundation Trust who are known for their work in genomics.
Cystic Renal Disease: Genomics Workshops
We are running a series of online workshops from March 2023 on Cystic Renal Disease, to get views on a model of nursing practice that enables equitable access and delivery of genomic care for patients with Cystic Renal Disease.
The 12 (Genomic) Days of Christmas - short animation from NHS East Genomics
A little animation based on The 12 Days of Christmas to introduce you to NHS East Genomics, with some facts and figures and a cameo or two from a certain hirsute, jolly gentleman...
Millions pledged for newborn genetic testing
The government has announced £105 million in funding to speed up diagnosis of rare genetic diseases in newborns, potentially resulting in life-saving interventions for thousands of babies.
Play Domino Talk Health events tackle prostate cancer health inequalities
Members of the local Afro-Caribbean community were invited to a Church in the St. Anne’s area of Nottingham on Monday 5 December to take part in a Play Domino Talk Prostate event run by our United Against Prostate Cancer (UAPC) project team.
Call for wider genetic testing for children with brain tumours
A team of doctors at Addenbrooke’s have highlighted how a simple genetic screening test improved the diagnosis and treatment of a little 17-month old girl with a brain tumour – caused by a rare condition.
RAREfest 2022 at Cambrdige Guildhall Saturday 26 November
Will we see you there?
Public consultation on clinical genomics services in England
Consultation period update
Harnessing the power of genetic testing to improve patient care
The Norfolk and Norwich University Hospital is playing a vital role in the delivery of genomic testing across the East to tailor treatments for patients according to their genetic makeup.
Genetic test rules out cancer for baby Oliver
A baby who was born with a large tumour on his leg has been spared chemotherapy and surgery, after whole genome sequencing at Addenbrooke’s revealed the lump was harmless.
Sharing best practice in WGS for children with cancer
East Genomics together with Wellcome Connecting Science and the University of Cambridge are hosting this one day workshop in October.
Webinar: Harnessing the power of Clinical Nurse Specialists in the rollout of genomics
Organised by the East Genomic Medicine Service Alliance (GMSA) this webinar is aimed at clinical nurse specialists (CNSs) within Cambridge University Hospital NHS Foundation Trust (CUH), North West Anglia Foundation Trust, Royal Papworth Foundation Trust, Norfolk and Norwich NHS Foundation Trust (NNUH), James Paget Foundation Trust, Queen Elizabeth's Hospital King's Lynne Foundation Trust
Large number of stem cell lines carry significant DNA damage, say researchers
Cambridge researchers say detailed genetic characterisation including whole genome sequencing can help ensure safety of cell-based therapies