NHS North West Genomic Medicine Service Alliance is a network of NHS professionals and partners, created to deliver the benefits of genomics for the people of the North West of England. nw-gmsa.nhs.uk
North West of England, GB
NHS North West Genomic Medicine Service Alliance reposted this
Did you see that genomics is in the news today? NHS England and Genomics England are working together to screen 100,000 newborns across England to check for for 200+ genetic conditions. The #GenerationStudy is one of a few exciting pioneering projects: https://buff.ly/3zq87jU
New in our blog: We look at a paper that suggests that, when applied to exome sequencing data, a type of #AI called machine learning may let scientists understand how copy number variants contribute to neurodevelopmental disorders. https://buff.ly/3MSBT4i
The identification and treatment of rare diseases through genomic testing is a vital step toward improving healthcare outcomes for individuals living with a rare disease or condition. The Association of Clinical Genomic Science' (ACGS) positioning statement 'Rare disease genomic testing in the UK and Ireland' highlights the importance of timely and equitable access to rare disease genomic testing, and is available to read in the Journal of Medical Genetics via our website. This initiative provides best practice guidance across the UK and Ireland, helping to ensure that patients receive accurate diagnoses and appropriate treatment in a timely manner. https://lnkd.in/ePP3DXdU
80% of rare diseases have a #genomic component (Source: Genomics England) Rare diseases include rare cancers such as childhood cancers, and some other well-known conditions such as cystic fibrosis and Huntington’s disease. #Individuallyrare #Collectivelycommon Genomics Education Programme
Did you know 1 in 17 people in the UK will have a rare disease in their lifetime? Visit our handy hub to explore more around conditions that are individually rare, but collectively common, and what you can do to help: https://buff.ly/39PcxEv
‘Breast pain alone is not a symptom of breast cancer’ This #BreastCancerAwarenessMonth tune into the latest #GPsTalkCancer podcast, from GatewayC GPs Dr Rebecca Leon and Dr Sarah Taylor share their experiences and insights to help you to detect #breastcancer earlier in primary care. This episode covers: 🔷 Symptoms 🔷 Cancer in pregnancy 🔷 Family history 🔷 Recurrence Listen now 👉 https://lnkd.in/eA7tgbMk #breastcancer #earlydiagnosis #primarycare #podcast #oncology
Learn more about the fundamental concepts in #genomics via Genomics Education Programme #Genomics101 series #Genes, #Genomes, #Genetics, #Genomics
Genes, genomes, genetics? Learn about core concepts in genomics with this 30-minute course, part of our #Genomics101 series: https://buff.ly/3Y9pUnT
The countdown is now on! Along with our colleagues at NEYGenomics, we exhibiting again this year at this fantastic national event. Calling all #Nurses! Come along and meet us, at our stand no. 208, which is all about #Nursing, #Genomics, and you! Register now via this link: https://lnkd.in/etQu7y_A.
#Genetics, #genomics - the phrase 'genetics' is fairly well known and understood but what is 'genomics'? Genetics relates to individual, or specific genes, whereas genomics, looks at all genes in our genetic makeup, or the #genome; to learn more then here is a great bite size resource from Genomics Education Programme
If genetics is about genes, then what is #genomics? Simply put, it is the study of ✨ all ✨ your genes (and the bits in between). But it is more than that! Find out more via our free bitesize resource, ‘What is genomics?’: https://buff.ly/3ZmOa8k
Fantastic achievement and recognition for groundbreaking research studies being undertaken across our region. Manchester University NHS Foundation Trust genedrive The University of Manchester
The University of Manchester has been shortlisted for three Times Higher Education (THE) Awards, one of which relates to the PALoH project; a groundbreaking research study undertaken by the faculty, leading to the worlds-first bedside genetic test to prevent babies going deaf. The research, led by Saint Mary’s Hospital, part of Manchester University NHS Foundation Trust (MFT), The University of Manchester, and genedrive, who helped to develop the pioneering, rapid bedside genetic test which was piloted at MFT in 2022. The technology could save the hearing of 180 babies in the UK every year and bring a saving of £5m to the NHS annually. The test is now being rolled-out in all Neonatal Intensive Care Units in Greater Manchester, with a hope that this will become part of routine clinical care across the UK. William Newman
#WorldPharmacistsDay acknowledges pharmacists for their important contributions to enhancing world health and the essential role pharmacists play in improving people's health and wellbeing. #genomics #pharmacogenomics #pharmacogenetics Jessica Keen