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East region Paediatric Genomics Forum May 2024

East Region Paediatric Genomics Forum, May 2024

An evaluation of East GMSA’s NICU/PICU R14 Rapid testing project.

14 May 2024, 4:37 p.m.
East Genomics Showcases Summer 2024

East Genomics Showcases July 2024

We are running three online showcase events for Cancer, Rare and Inherited Conditions, and Prenatal and Paediatrics in July 2024.

13 May 2024, 4:54 p.m.
Genomics BITE - Patient session on Lynch Syndrome and Rare Condition

Patient session for people with Lynch Syndrome or a Rare Condition

A bite-sized education session from NHS East Genomics on a range of patient support tools and resources for people with Lynch Syndrome and Rare Conditions.

9 May 2024, 1:19 p.m.
Opal

Baby born deaf can hear after breakthrough gene therapy

A baby girl born deaf can hear unaided for the first time, after receiving ground-breaking gene therapy when she was eleven months old at Addenbrooke’s Hospital in Cambridge.

9 May 2024, 12:01 a.m. From: CUH
ctDNA webinars 2024

Clinician webinar: Circulating Tumour DNA project

In support of the national roll-out of ctDNA testing to a further 10,000 patients, we are running two identical 30 minute sessions on Monday 29 April, and Thursday 2 May 2024, to share with healthcare staff the pathway, supporting resources/documentation and information on the testing process including how to order testing kits.

25 Apr 2024, 12:40 p.m.
ctDNA case study Kat Robinson

Blood test reveals best lung cancer treatment

Thousands of patients in England with suspected lung cancer are being offered a blood test which can show if they can get early access to targeted therapies.

9 Apr 2024, 3:59 p.m.
Genexus machine NUH

Next generation genomic testing brings benefits to patients and clinicians at NUH

Genomic testing is an important tool in the diagnosis of many rare conditions and cancers. But when it comes to cancer, it can also help to understand a patient’s prognosis, for example how quickly their cancer is likely to grow. However, perhaps most importantly for most cancer patients, gene variants revealed through genomic testing can also help doctors provide more effective treatments, with potentially fewer side-effects, via targeted therapies.

5 Apr 2024, 2:51 p.m.
Genomics BITE - Pharmacogenomic testing and aminoglycoside use

Genomics BITE: Pharmacogenomic testing prior to aminoglycoside use

Our series of regular Genomics BITE sessions provide healthcare staff with updates, information and training on key areas of genomic medicine and testing.

3 Apr 2024, 1 p.m.
LS Awareness Day 2024

Lynch Syndrome Awareness Day: 22 March 2024

Lynch Syndrome Awareness Day in 2024 is Friday 22 March. You can read some clinician and patient stories on this page which shed light on this common genetic condition.

22 Mar 2024, 8 a.m.
Prof Madhusudan square

Introducing our new Cancer Lead for the East Midlands

We're delighted to welcome Professor Srinivasan Madhusudan who joins us as Cancer Lead for the East Midlands.

21 Mar 2024, 1:07 p.m.
East Genomics Fora

Upcoming Genomics Forums: Prenatal Medicine

Here at East Genomics we now run two regular Genomics Forums aimed at specific groups of clinicians - those working in Paediatrics and those working in Prenatal Medicine.

18 Mar 2024, 3:55 p.m.
Genomics BITE R445 pathway

Genomics BITE: R445 Testing Pathway

Our first Genomics BITE session of 2024 focusses on the R445 testing pathway, which is a new addition to the National Testing Directory expected to be implemented into maternity services by 1 April 2024.

5 Mar 2024, 4:16 p.m.
Illustration of a pregnant woman and a DNA strand with a photo of Jo Hargrave (Lead Midwife, East GMSA) with text: 'Are midwives ready for the Genomic Era?'

Are midwives ready for the Genomics Era?

Taken from the Maternity and Midwifery Forum website, this article by our Lead Midwife, Joanne Hargrave, highlights developments around genomics and how midwives and students need to keep up-to-date in order to provide appropriate information and care.

5 Mar 2024, 11:51 a.m.
Lynch Syndrome patient event Nottingham

Lynch Syndrome patient event in April

Do you have a diagnosis of Lynch Syndrome? Join us for a FREE patient event in Nottingham (with virtual joining option) on 22 April 2024.

27 Feb 2024, 12:45 p.m.
Rare Disease Day 2024

Rare Disease Day 2024

This year Rare Disease Day - an annual international day to raise awareness of rare diseases and conditions - is itself even more rare as it falls on 29 February this leap year!

2 Feb 2024, 9:19 a.m.
Dr Padmalal Gurugama

Gene-editing offers hope for people with hereditary disorder

A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, a study reports.

31 Jan 2024, 10 p.m. From: CUH
Festival of Genomics and Biodata 2024 square

East Genomics at Festival of Genomics and Biodata

We hear from Jo and Chris, both based at Norfolk and Norwich University Hospitals NHS Foundation Trust, who spoke at the Festival of Genomics and Biodata held in London, 24-45 January 2024.

31 Jan 2024, 2:25 p.m.
East Prenatal Genomics Forum square

NEW East region Prenatal Genomics Forum

We are pleased to invite anyone working in Feto-Maternal or Prenatal services, midwifery or genetics to join our new Prenatal Genomics Forum for the East region.

30 Jan 2024, 2:40 p.m.
Jan 2024 newsletter

Our January 2024 newsletter out now!

Our latest East Genomics newsletter is out.

22 Jan 2024, 4:45 p.m.
Dr Martin Besser

Thousands of people with inherited blood disorders to get world-first NHS test to curb transfusion side effects

From today, almost 18,000 people in England with sickle cell disorder and thalassaemia can have a world-first genetic test to better match future blood transfusions, reducing the risk of side effects.

22 Jan 2024, 1:56 p.m.