Genomics England

08/04/2026

Did you tune in to our latest episode of Behind the Genes?

Our guests discussed the importance of collaboration when it comes to advancing treatments for those living with rare conditions.

Listen on your favourite podcast app, or on our website: https://ow.ly/3FMl50YF4eA

30/03/2026

Researchers have used data from Genomics England’s National Genomic Research Library to identify a new recessive neurodevelopmental disorder which is believed to be one of the most common genetic causes of severe childhood epilepsy.

Published in Nature Genetics, the studies have already provided long‑awaited answers for families. The newly recognised condition, caused by changes in the RNU2‑2 gene, is linked to difficult‑to‑control seizures and significant developmental challenges.

This discovery is a powerful example of how research linked to clinical care, powered by genomic data from patients and participants in the UK, can change lives around the world.

Read more via the link:

Find the contact, social media, service desk, and other important information for Genomics England.

25/03/2026

What if a treatment created for one person could one day help many others?

In our latest episode of Behind the Genes we explore how advances in genomics are opening up treatment possibilities for people living with rare conditions and why there is still a gap between what science can do and what patients can access.

Our guests discuss why these treatments matter, and where hope is growing for the future.

Listen to the episode on your favourite podcast app, or on our website via this link: https://ow.ly/piXG50YyuJP

18/03/2026

What do we mean by de-identified data?

Georgia Chan, Senior Data Wrangler at Genomics England, joins our latest Genomics 101 episode to explain.

Genomics 101's are our bitesize podcast episodes, all less than 10 minutes long, which explain terms you may come across in genomics.

Listen on your favourite podcast app or on our website: https://ow.ly/ukzu50YvH5Z

12/03/2026

Around 80% of rare conditions have a genetic cause.

Read the blog to learn why genomics is vital in helping us understand and treat rare conditions, linked below:

https://ow.ly/BkiK50Ysf2a

10/03/2026

Last week we shared news of Safi, a baby who has benefitted from being part of the Generation Study. Shortly after being born she was diagnosed with isolated growth hormone deficiency (IGHD) and was able to start treatment early.

Read Safi's story: https://ow.ly/eFFj50YrK3E

03/03/2026

Applications close this Sunday, 8 March at 11:59pm for new Participant Panel members and a Vice-Chair for cancer.

The Panel plays a vital role in ensuring the voices of participants and their families inform everything Genomics England does. Panel members provide guidance and advice to Genomics England, including on the use of genomic medicine within the NHS.

The Panel is made up of a diverse group of people with a range of lived experiences who have consented for their de-identified genomic data, or the data of someone they care for, to be held in the National Genomic Research Library (NGRL). This enables research to improve the diagnosis and treatment of rare conditions and cancer.

For more information and how to apply visit: https://www.genomicsengland.co.uk/patients-participants/participant-panel/join

02/03/2026

Safi, a baby recruited onto the Generation Study, was diagnosed with isolated growth hormone deficiency (IGHD) shortly after birth, meaning she was able to start treatment early.

Now 13 months old, Safi has grown 15cm since starting treatment. If treatment continues, her adult height is expected to be within a typical range and unaffected by IGHD.

Read the story:

Find the contact, social media, service desk, and other important information for Genomics England.

28/02/2026

This Rare Disease Day, the focus is on equity for people living with rare conditions.

Equity means fair access to diagnosis, care, support and research no matter where you live, the condition you have, or how rare it is.

At Genomics England, we’re committed to supporting the rare conditions community through research, collaboration and by amplifying lived experience.

Explore our Rare Disease Day hub, bringing together blogs, podcasts and personal stories that highlight the real-world impact of rare conditions and the importance of equitable healthcare.

Visit the page to learn more: https://ow.ly/nIER50Yia96

27/02/2026

“Rare Disease Day is a powerful reminder of the need to improve the lives of people living with a rare condition. Genomics has the potential to play an important role in that and help get ahead of serious illness. And when completed, the Generation Study will generate first-of-its-kind evidence that could help to change the future of genetic health.”

Read our article for the Health Awareness Rare Disease Day campaign online and in today’s copy of the Guardian. We discuss the Generation Study, the impact it’s having for participating families, and its role guiding ambitions of newborn genomic sequencing in the future:

The Generation Study is providing earlier diagnoses and faster, life-changing treatment for babies around the country.

26/02/2026

"I believe we are going through a transformational change, and the rare community is helping to achieve the impossible."

To mark Rare Disease Day this Saturday, Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, shares her thoughts on the 'hype and hope' around progress in treating rare conditions, linked below.

https://ow.ly/Mk7o50Yl02Z

25/02/2026

Blood cancers are the fifth most common group of cancers in the UK. Genomics is changing how we diagnose and treat blood cancers, and for a small number of people, it is also revealing inherited risk. Finding out about inherited genetic changes can help guide treatment, support family members, and shape future care.

In our latest episode of Behind the Genes, we explore how genomics is helping families understand their risk and make informed decisions, and how genomic research is changing the future of care.

Listen on your favourite podcast app or on our website: https://ow.ly/IpSG50YlK5Y