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: ow.ly/RVuJ50TBVQf@DHSCgovuk@NHSEngland
ALT Parents holding babies and the text 'The study aims to improve our understanding of how to diagnose and treat rare genetic conditions by sequencing newborns’ genomes.'
ALT Parents holding babies and the text 'It will also support research into genetic conditions and explore the potential of storing a genome over a person’s lifetime.'
ALT Parents holding babies and the text 'Parents at participating NHS Trusts will be asked if they wish to join from approximately 20 weeks of pregnancy.'
ALT Parents holding babies and the text 'The study was designed in collaboration with the public, parents, healthcare professionals and people from the rare disease community.'
How can we increase gene coverage for developmental disorders in PanelApp?
Read the bioinformatics blog on how we used a gene panel from the Gene2Phenotype database to improve diagnosis for patients with developmental disorders.
ow.ly/tt8y50Rur8l#Bioinformatics
📣 We have just signed off >100 new panels that relate to small and single gene tests included in the #RareDisease National Genomic Test Directory orlo.uk/GF5eU
This means PanelApp will now display all gene panel tests that are available through the @NHSgms in England
Thank you to everyone who's joined us on this journey 🧬 #ourDNAdecade
ALT Light blue background with text: Ten years ago, Genomics England was formed to deliver the 100,000 Genomes Project. The NHS is now the first healthcare
system in the world to offer whole genome sequencing as part of routine care.
A green circle and light blue pill-shape adorn the top right corner of the graphic.
ALT Light blue background with a green circle, pink half circle, and light blue pill-shape with the text: It's been a revolutionary decade. We want to thank every participant and patient who informed us along the way and trusted us with their data.
ALT Light blue background with text: Today, 10 years from our start...
In a green pill-shape are the words: 5% to 55% of participants (depending on clinical area) received a finding that was clinically relevant to their cancer or rare condition
In a blue pill-shape are the words: Nearly 2,200 approved academic and life sciences researchers conducting potentially life-changing research on the data.
A pink pill shape with the text: >2,200 potential diagnoses identified via research.
In a yellow pill shape is the text: 140,500 genomes in the National Genomic Research Library
ALT Light blue background with a 3 half circles in yellow, pink and light blue with text: We're proud of everything we've accomplished with the NHS, but there's still more to do.
We look forward to what the next decade of genomic healthcare will hold.
The GenCC publication is now available in @GIMJournal! DiStefano et al. "The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources" sciencedirect.com/science/ar… 1/6
We're now over 15,000 submissions to GenCC search.thegencc.org/ from 12 groups and just posted our first paper on medRxiv: doi.org/10.1101/2022.01.03.2… Thank you to all of the submitters who are generously sharing their gene-disease validity curations with the wider community!
A world-first scientific study, published today in @NEJM has shown that whole genome sequencing can uncover new diagnoses for people across the broadest range of #rarediseases investigated to date & could deliver enormous benefits across the @NHS. @QMULgenomicsengland.co.uk/100k-w…
“We are delighted to have participated in this study with our Australian colleagues. They have been amazing at driving forward the content and functionality of Panelapp.”-Augusto Rendon, our Chief Bioinformatician.
@PanelAppTeam@PanelAppAus@AusGenomicsgenomicsengland.co.uk/panela…
“We are delighted to have participated in this study with our Australian colleagues. They have been amazing at driving forward the content and functionality of Panelapp.”-Augusto Rendon, our Chief Bioinformatician.
@PanelAppTeam@PanelAppAus@AusGenomicsgenomicsengland.co.uk/panela…
Professor Sir Mark Caulfield will be leaving his role as Chief Scientist at Genomics England after July 21 to take up the position of Chief Executive at @ls_barts.
Sir Mark leaves an extraordinary legacy of scientific achievement at Genomics England.
genomicsengland.co.uk/profes…
Can you help us find the last 600 people we need for our COVID-19 study? Thousands of people have already volunteered, we now need just 600 more. Is that you or someone you know?
Find out more and sign up: covid.genomicc.org/#covid19study#coronavirus#covidpuzzle
We are excited to announce the launch of the NHS GMS Panels Resource: nhsgms-panelapp.genomicsengl… which offers a view of diagnostic-grade 'Green' genes/entities that have been approved for use in the NHS Genomic Medicine Service in England! @GenomicsEngland@NHSgms@NHSEngland