Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of them are slightly different. These tiny differences contribute to each person’s unique physical features. Let’s explore rare imprinted genes, a special class where one parental copy is switched off, […]
Researchers developing new treatments for children with rare brain tumours know that it’s not a case of treating children like tiny adults and that surviving the disease isn’t enough. Reducing the damage done by treatments is just as important to the survivor. Discover how researchers are minimising damage and why they think studying rare children’s […]
Getting wider access to drugs for as many patients a possible is a clear priority in the drug development process, especially for patient groups who are working to secure research into and treatments for their rare conditions. However, understanding how to secure access to newly developed treatments is an often-neglected challenge. The processes involved in […]
Sign up to learn about the role of communication in rare disease from those affected directly, in an interactive FREE virtual event! About this event The event will kick off with a session from our guest speaker, who will explore the value of effective and sensitive communication skills when it comes to handling complex conditions, […]
This webinar is part of the popular Genetics of webinar series and will provide an interesting update on the genetic origins of intellectual disability, as well as explore what challenges remain in this area. Our speakers will explore what research is required after a genetic diagnosis of intellectual disability and what families would value the most from the […]
Join the RSM at this multidisciplinary event which will provide a valuable overview and a broader understanding of hypermobility syndrome and the care of these patients. Experts in their field will present a series of talks that will inform delegates about practical guides for the assessment and management of this condition and will explore how […]
The European Conference on Rare Diseases & Orphan Products (ECRD) is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and an international level to take place. ECRD 2022 will take […]
This webinar is part of the popular Genetics of webinar series and will discuss the challenge of equality and diversity in genomic research and clinical settings and strategies to address this. Genomic research has traditionally been focused on caucasian populations, which leads to inherent biases in genomic findings translated into clinical research. Underrepresentation of other populations in […]
Join the North Thames Genomic Medicine Service showcase to find out how genomic medicine is transforming healthcare in their region. Genomic medicine is coming into every-day-practice for multi-disciplinary healthcare professionals across the NHS, improving how we diagnose and treat patients of all ages with cancer and rare or inherited diseases. In North London, Essex and […]
This highly-anticipated event provides the unique opportunity to learn about the latest research, treatments, and day to day management of BBS, network with like-minded professionals and more importantly, learn from those living with Bardet-Biedl syndrome. The programme is still being finalised but will include: * Invaluable personal perspectives of living with BBS * An Update […]
