In a week of celebrating rare diseases, Don and Allison attended a symposium organised by the Medical Genetics Section of Students4RareDiseases.
The meeting aimed to encourage medical students and trainees to develop understanding and awareness of rare conditions to reduce time to diagnoses. At the end of the meeting, medical students and trainees would be informed about rare diseases that they would not necessarily become familiar with a medical school.
The meeting aims were to:
• Provide an understanding of the genetic basis of rare diseases and appreciate how studying these disorders can inform about common, complex diseases – eg osteoporosis.
• Explore the needs of individuals affected by rare diseases.
• Familiarise participants with the European commitment to help people with rare diseases and develop new bespoke therapies.
The afternoon of presentations was highly informative; the concept behind the syposium (as stated above) being to educate upcoming medical students with an interest in rare diseases with an insight into some of the aspects such as research, issues and the importance of patient support groups. As well as the subject matter being of interest, including a speaker on the curent 100,000 Genomes Project a world-leading research project into cancers and rare diseases being conducted by Genomics England, we were able to engage with representative from Students4RareDiseases and discussed the possibility of a future presentation to medical students on r(20) syndrome at St Barts.
At the end we had time for discussion which presented a useful opportunity to speak with Christine Lavery MBE from The MPS Society. Christine was kind enough to pass on some hints and tips for becoming a succesful rare disease support group – so thank you Christine!