From the 5th-8th June, we were in Glasgow to attend the European Human Genetics Conference. As a charity, we were given a stand in the exhibition hall of the conference, allowing us to raise awareness of AKU at this fantastic event. In today’s blog Sorsha shares how the weekend went, and the benefit of attending the conference organised by the European Society of Human Genetics.
When we arrived to set up our stall the day before the conference, the sheer scale of this event really hit us. Our stall was located in the gigantic exhibition hall, where other charities, companies, and scientific researchers were setting up their stalls for the days ahead.
Over the following three days, we had many people come up to us on our stall from all over the world. We had lots of interest from genetic counselors, many of whom knew about AKU from their training, and wanted more information about it should they ever meet a patient.
We also had visits from clinicians, paediatricians, and those working in genetic labs to diagnose diseases. Most had heard of AKU, but many did not know about the AKU Society. Some of those who visited our stall even knew of patients with AKU in their country.
It was brilliant to pass on information to these people, knowing it will allow patients to get in touch with us for support. The connections made at conferences like these are so worthwhile, and can often lead to new and beneficial partnerships.
Connecting with other organisations and charities is also important. Alongside us on the charity stalls were Unique, Genetic Alliance UK, Progress, Ring 20 and Alström Syndrome UK. During the conference was a great opportunity to speak, and share ideas.
Although most of the talks were focused on very specific and technical areas of genetics, it was great to see a few of the speakers dealing with rare diseases as a whole. On the first day I attended a session called ‘care for rare diseases’. The session began with a talk from Helena Kääriäinen, who is a research professor, and expert in clinical genetics, especially concerning rare diseases.
Her talk focused on the patient’s perspective on rare diseases. She said accurate diagnosis is a right for all patients. In rare diseases, genetic testing is crucial to providing patients with this right. Helena explained how progress in this area requires a coordinated strategy across Europe, ensuring patients get the same rights, despite the fragmented nature of the EU.
Helena also emphasised the need for education about genetics, both amongst clinicians, and the general public. This education will be key to how we manage genetic information in the future. If you want to learn more about genetics, you can check out these leaflets produced by EuroGentest.
Kate Bushby followed Helena to speak about European Rare Disease Policy, and how it really impacts on service provision. As Coordinator of EUCERD Joint Action on Rare Diseases, Kate spoke about the project, and how it provides policy support by providing recommendations. One of these recommendations was for each country to develop a national rare disease strategy. This has been a big driving force for change, with 21 countries across the EU having now completed their plans.
The EU is a fantastic facilitator of research, but data sharing between researchers needs to be encouraged. Kate said we need to link expertise, and combine patient registries across Europe. Furthermore, we should be lobbying against leaving the EU in the referendum to come, as rare diseases are real evidence of the benefit the EU can provide.
Another great talk I attended was an update on the 100,000 Genomes Project. Chief Scientist for Genomics England, Mark Caulfield, spoke about the project, describing the well known challenges of rare diseases, and establishing the importance of tackling these.
The 100,000 genomes project aims to do just this, by analysing the genomes of patients without a diagnosis, and building a national rare disease registry in the process. The common theme of collaboration and sharing of expertise came up once again, as Mark explained the importance of involving patients, students, researchers, clinicians, the NHS, and industry to make the scheme a success.