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Genomics England podcats

Podcast: Transforming the NHS with genomic medicine

This year Genomics England celebrated their 10-year anniversary, the NHS celebrated a significant milestone of 75 years.

23 Nov 2023, 11:33 a.m.
PhenoTips

Powerful new digital genetics tool to support diagnosis and care for cancers and rare conditions launched at UHL

A new digital tool for taking the genetic family history of patients, which can improve the process for diagnosing cancers and rare conditions, has been launched at University Hospitals of Leicester NHS Trust.

21 Nov 2023, 3:07 p.m.
Nursing and Midwifery newsletter November

Our Nursing and Midwifery November newsletter

The November edition of our Nursing and Midwifery newsletter is available to read on our website.

10 Nov 2023, 10:24 a.m.
Genetic Counsellor Awareness Day 2023

Meet the Genetic Counsellors

For Genetic Counsellor Awareness Day (Thursday 9 November) we caught up with two Genetic Counsellors at a couple of our partner NHS Trusts to discuss their role, the impact on patients and families and some of the reasons they find their roles so rewarding.

9 Nov 2023, 7 a.m.
Lynch syndrome patient experience survey

People with Lynch Syndrome invited to share their experiences

We have just launched a Lynch Syndrome Patient Survey to find out more about your experiences of Lynch Syndrome diagnosis, genetic testing and management.

8 Nov 2023, 1:47 p.m.
East Midlands Cancer Alliance - Genomics Clinical Leads (Primary Care)

Expressions of Interest sought for Genomics Clinical Leadership roles (Primary Care)

East Midlands Cancer Alliance (EMCA) is looking for clinicians from primary care with an interest in genomics to clinically lead their genomics work as part of their growing early diagnosis and detection programme.

6 Nov 2023, 2:43 p.m.
Eleanor today

Three years after genetic diagnosis, little Eleanor recovers from successful organ transplants

We are very pleased to update on the story of three-year-old Eleanor, who was born with an ultra-rare genetic condition which meant her intestines didn’t work.

30 Oct 2023, 11:16 a.m.
Respiratory Genomics Conference 23

Respiratory Genomics Conference 2023

A conference to engage and inspire the international Respiratory Genetics/Genomics community and promote networking and collaborations. Early career scientists are especially welcome.

24 Oct 2023, 11:45 a.m.
A little boy sitting down with his parents holding a toy helicopter smiling

Genetic research was “the best gift” for our son

A family from West Yorkshire, who say genetic research was “the best gift” for their son, are supporting Cambridge Children’s Hospital, the first specialist children's hospital to bring genomic research, physical health, and mental health together, under one roof.

18 Oct 2023, 1:58 p.m.
Genomics BITE: Cancer Genomics and UAPC

Genomics BITE: Cancer Genomics and United Against Prostate Cancer project

Our Genomics BITE session for November 2023 looks at Cancer Genomics and our United Against Prostate Cancer project, and is aimed at anyone working in cancer or urology services, or anyone with an interest in these areas.

12 Oct 2023, 4:16 p.m.
Shelina Rajan

Finding the missing 92%…how a genetics service is helping to find people at risk from an underdiagnosed cholesterol condition

This month a new pilot health service in Norfolk and Waveney has started to identify people at highest risk from a common inherited condition that can lead to dangerously high levels of cholesterol in the blood. This condition is known as Familial Hypercholesterolemia, or FH for short.

12 Oct 2023, 10:27 a.m.
A man smiling

World-first trial to provide hearing for children with rare type of genetic hearing loss launches in Cambridge

Addenbrooke’s Hospital in Cambridge is participating in a world-first trial to see whether gene therapy can provide hearing for children with severe to profound hearing loss due to a rare genetic condition.

11 Oct 2023, 9 a.m.
Breast Cancer Awareness Month square

October is Breast Cancer Awareness Month

October is Breast Cancer Awareness Month, a month dedicated to raising awareness about breast cancer, and learning more about early detection, prevention, and research.

9 Oct 2023, 11:16 a.m.
R21 project final presentation

R21 Project Final Presentation

In this final presentation from our R21 (prenatal exome sequencing) project, we will share our survey findings, give an overview of resources we have developed for healthcare staff (including details of R21 e-learning module) as well as next steps for taking forward the project recommendations.

27 Sep 2023, 11:31 a.m.
Finding the Fragments - ctDNA in lung cancer event, 9 October 23

Finding the Fragments: ctDNA in lung cancer

A 1 hour education and engagement event to promote awareness and uptake of ctDNA testing across the East of England.

22 Sep 2023, 12:34 p.m.
Bria Mcallister, Urology Nurse Practitioner at NUH

Supporting prostate cancer patients in the East Midlands

As September is Prostate Cancer Awareness Month, we took the opportunity to speak to Bría McAllister, a Urology Nurse Practitioner with a specialist interest in prostate cancer. Bría has worked in Urology since 2004, initially in Glasgow and now at Nottingham University Hospitals NHS Trust (NUH).

6 Sep 2023, 3:12 p.m.
Karine Latter, PPV Panel Member

My Lynch Syndrome Journey

Just after her 60th birthday, Karine Latter returned her national bowel screening test. Taking her only five minutes to complete, five days later Karine received a letter informing her that the test was positive. She was given an appointment to see a clinical nurse specialist to arrange a colonoscopy. Karine takes up the story below, in her own words...

4 Sep 2023, 9:22 a.m.
Pharmacy Network Podcast

Pharmacy Network Podcast: Episode 2 out now

The second episode in a new series of pharmacy podcasts hosted by Paul Selby, Pharmacy Lead for East Genomic Medicine Service Alliance (GMSA), is now available to listen to on Soundcloud.

31 Aug 2023, 10:22 a.m.
Moaeed, HIna and family

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.

31 Aug 2023, 9:51 a.m.
New PPV Panel members

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.

8 Aug 2023, 11:16 a.m.