Rare diseases
RARESUMMIT19
100,000 GENOMES PROJECT OverviewRARESUMMIT19 RARESUMMIT19 is a 1 day summit focusing on patient-centricity in Rare Disease progress The aims of RAREsummit19 to highlight exemplars of patient involvement to provide a toolkit of practical strategies to help educate, inspire and empower all rare disease stakeholders to give stakeholders the knowledge and skills to ensure their practices involve patients […]
Genomics England Research Conference 2019
FAQGenomics England Research Conference The power of 100,000 whole genomes, presented for the first time by clinical, academic and industry researchers. The inaugural Genomics England Research Conference will showcase world-leading research that is being done with the data from the 100,000 Genomes Project. 100,000 whole genomes have now been sequenced from NHS patients […]
Rare Disease Day 2020- Westminster Reception
House of Commons Terrace Marquee, St Margaret Street, London, United KingdomAbout this Event Join Rare Disease UK for our annual Rare Disease Day Westminster Reception. Speakers include: - Baroness Blackwood, Parliamentary Under-Secretary of State for Life Science – Dr Jayne Spink, Chair of Rare Disease UK and Chief Executive of Genetic Alliance UK - Amanda Brodie, patient affected by Cushing’s disease Further information will be […]
Genomics and Genetics – Counselling Skills
Cardiff University Cardiff, Wales, United KingdomCardiff University will be running a 4 day face-to-face course in Counselling Skills for Genetic Healthcare to which any genetic counselors and other healthcare professionals in our region have been invited. The course will help applicants develop their counselling skills for supporting patients and their families in their clinical practice, who may be coping with […]
Genomics of Rare Disease
Wellcome Genome Campus Wellcome Genome Campus, Hinxton, Cambridge, United KingdomWellcome Genome Campus is holding a 3 day conference on rare disease, presenting a blend of genomic science and clinical medicine. The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital […]
ERN GENTURIS webinar: From Li-Fraumeni to heritable TP53-related cancer syndromes
Online , United KingdomFrom Li-Fraumeni to heritable TP53-related cancer syndromes In this ERN GENTURIS webinar Prof. Thierry Frebourg, head of the department of genetics of the Rouen University Hospital, will focus on Li-Fraumeni and heritable TP53-related cancer syndromes. He will discuss which patients should be tested for TP53, how germline TP53 variants should be interpreted and what the […]
Genetic Alliance UK workshops – registration deadline
Online , United KingdomCELL AND GENE THERAPY ENGAGEMENT WORKSHOPS Genetic Alliance UK are organising a series of virtual workshops on the topic of cell and gene therapies. It is a great opportunity to learn about cell and gene therapies from a series of experts and some of the challenges these therapies face reaching people affected by rare […]
Virtual Cancer Genetics Course 20/21
Online , United Kingdomnmn
Westminster Health Forum: Next steps for rare diseases and specialised commissioning
Online , United KingdomNext steps for rare diseases and specialised commissioning - policy priorities, utilising genomics, patient engagement and co-ordinating care This online conference orgainsed by the Westminster Health Forum will discuss the key policy priorities and next steps for improving outcomes in rare diseases and specialised commissioning in England. Key areas for discussion: the UK Strategy […]
The Festival of Genomics & Biodata
Online , United KingdomJoin the the UK’s largest genomics and biodata event this year online. The Festival spans everything from sample collection and preparation, through sequencing and genomic data analysis, to the integration of phenotypic and other biodata to make meaningful research and clinical decisions. The ultimate focus of the Festival is to deliver the benefits of genomics […]