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Rare Disease Day 2023

CamRARE promotes diagnostic equity for all for Rare Disease Day

Originally published in the Cambridge Independent.

15 Feb 2023, 11:08 p.m.
Andy's story: Prostate Cancer, Genetics and Me

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”.

2 Feb 2023, noon
Paul Warman, Lead Scientist for Cancer with Shafu Master, Genetic Technologist.

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.

31 Jan 2023, 1 p.m.
Clara, December 2022

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.

25 Jan 2023, 9:01 a.m. From: CUH
Dr Sam Behjati

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.

11 Jan 2023, 9:44 a.m.
East GMSA colleagues Vicky Carr, Paul Selby and Aris Saoulidis will be speaking at this year's Festival of Genomics and Biodata

Festival of Genomics and Biodata 2023

An annual get-together for the entire genomics and biodata community, to discover, meet, learn and celebrate. This year’s Festival promises inspirational speakers, the latest research and clinical breakthroughs, cutting-edge technology and incredible networking opportunities.

6 Jan 2023, 10:52 a.m.
Professor Chaterjee and Beth Blane

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.

5 Jan 2023, 10:16 a.m.
Flyer for Cystic Kidney Disease workshops

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.

28 Dec 2022, 5:04 p.m.
Video still of 'The 12 Days of Christmas - NHS East Genomics'

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...

21 Dec 2022, 4:07 p.m.
Newborn

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.

13 Dec 2022, 6 a.m. From: CUH
Play Domino Talk Prostate event in Nottingham, December 2022

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.

12 Dec 2022, 3:36 p.m.
Dr Mayen Briggs

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.

24 Nov 2022, 9 a.m. From: CUH
RareFest event graphic

RAREfest 2022 at Cambrdige Guildhall Saturday 26 November

Will we see you there?

8 Nov 2022, 8:51 a.m.
NHS England genomics survey and consultation

Public consultation on clinical genomics services in England

Consultation period update

4 Nov 2022, 11 a.m.
Day Case Unit at Norfolk and Norwich University Hospitals

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.

25 Oct 2022, 11:28 a.m.
Oliver with parents Sara and Michael

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.

30 Sep 2022, 9 a.m. From: CUH
Aubrey with her dad and Professor Matt Murray

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.

23 Sep 2022, 10 a.m.
Genomics in Nursing and Midwifery Conference image

Making a Difference: Genomics in Nursing and Midwifery Conference

A FREE conference aimed at nurses and midwives - across a wide range of roles and from 'ward to board' - working in the East Midlands or East of England. The conference will outline how genomics and genetic testing is helping patients in the East Midlands and East of England, the crucial role nurses and midwives are playing in embedding genomics into routine NHS care, and the role of East GMSA in supporting all of this.

21 Sep 2022, 3:25 p.m.
Webinar on Genomics for Clinical Nurse Specialists

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

8 Sep 2022, 3:28 p.m.
Max Williamson

New clues to treat germ cell tumours

A study by a team from Addenbrooke’s and the Wellcome Sanger Institute has revealed more about the origin of germ cell tumours, usually found in the ovaries and testicles, suggesting new approaches to future treatment.

11 Aug 2022, 10 a.m. From: CUH