The Generation Study is a ground-breaking research study in partnership with the NHS which will sequence the whole genomes of up to 100,000 newborn babies and look for 200+ rare conditions in early childhood. Find out more: https://t.co/rLJv2SJ6ya @DHSCgovuk @NHSEngland

People affected by rare conditions wait an average of 5.6 years to receive an accurate genetic diagnosis, a journey often called the 'diagnostic odyssey'. In a previous blog, we took a closer look at the diagnostic odyssey. Read it here:

25,000 babies have now enrolled in the Generation Study, a major milestone in one of the world’s largest research studies of its kind, which explores how whole genome sequencing could be used to screen newborns for over 200 rare genetic conditions. Read: https://t.co/n8KV3A8en5

DNA, genes, and chromosomes, what's the difference? 🧬 In the latest blog, we explain the meaning of these commonly used genetic terms, and how they all differ from one other. Find out more via the link below: https://t.co/nKgbqwIzd9

Dr Ellen Thomas, Chief Medical Officer at Genomics England, and Adam Clatworthy, Vice-Chair for Rare Conditions of the Participant Panel, will be speaking at this event, from 5:30-7:30pm tomorrow. Attendance is free and all are welcome. Register via the link below.

This months research seminar will feature talks from members of the Bioinformatics and Machine Learning Community, exploring novel rare condition gene discovery. Tuesday 28 October, 2 to 3pm. Online and free for all to attend. Register:

A baby with a rare eye cancer is getting life-changing treatment faster, thanks to a groundbreaking study by @GenomicsEngland and @NHSEngland @WesStreeting explains how the Generation Study is driving innovation in healthcare as part of our 10 Year Health Plan.

4 weeks after being born, Freddie was diagnosed with a rare form of eye cancer. He is one of numerous babies born with rare conditions who are receiving earlier diagnoses and treatment as a result of the Generation Study. Read the full story: https://t.co/p4UzSMWuWW @DHSCgovuk

One week to go until the 2025 International Consortium on Newborn Sequencing (ICoNS) conference on 23-24 October. Hear from world-leading experts on the latest advances in newborn sequencing. There’s still time to register and be part of the conversation:

What is the Genomics England Research Environment? Emily Perry, research engagement manager at Genomics England, joins our latest Genomics 101 episode to explain how the Research Environment enables research into rare conditions and cancer. Listen here: https://t.co/8ek65pPuKQ

How are genetic conditions diagnosed? Watch our new animation to find out: https://t.co/Wn3y6Cd6JH #undiagnosed #UndiagnosedGeneticCondition #SyndromeWithoutAName #genetic #GeneticCondition #diagnosis

Living with a rare condition or cancer can impact mental wellbeing. Today we want to recognise the importance of support alongside research, which you can find at organisations including Rare Minds, Genetic Alliance UK, SWAN UK, Macmillan and CRUK 💚 #WorldMentalHealthDay

In the past year, 127 research papers were published using data from the National Genomic Research Library - almost double the number from last year. Read the blog to see how our Research Network is powering breakthroughs in rare conditions and cancer: https://t.co/TAmoO9F0Bq

Watch SWAN UK's new animations, which help explain what it means to have a child affected by an undiagnosed genetic condition. Link in the post below 👇

What is it like to work in one of the hospitals delivering the Generation Study, or to be one of the parents participating? Listen to our most recent Behind the Genes podcast episode to find out more: https://t.co/axrXO3AzYI

We run twice-monthly Research Environment training sessions 🧬 14 October, 13:30 - 15:00: Tools and exporting data for publications and reports (for Research Network members only) 24 October, 13:30 - 15:00: Intro session (open to all) Register for free:

Clinical bioinformaticians play a vital role in turning genomic data into insights that can benefit patients. Read our previous blog where Clare Kennedy shares her day-to-day and motivations as a Clinical Bioinformatician at Genomics England. Read more:

It’s International Podcast Day! Behind the Genes brings together voices from across the genomics community and explores how genomics is impacting healthcare. Our bitesized Genomics 101 episodes break down complex terms. Listen: https://t.co/xTqEGIBdml #InternationalPodcastDay

Airlock is a secure gateway used for moving data into and out of the Genomics England Research Environment. Learn more about it in the latest blog, linked below. https://t.co/KE0g8yxuGF

In our latest Behind the Genes episode learn how the Generation Study is brought to life in NHS hospitals. We follow the journey of parents joining the study at the start of their baby’s life, and hear from those making it happen on the ground. Listen: https://t.co/l0WBg0xIlB

Our research seminar this month will focus on the Generation Study, a landmark UK initiative exploring the feasibility, impact, and ethics of using whole-genome sequencing in newborn screening. 30 September, 14:00 - 15:00, open to all. Register for free: