A rare disease by definition affects less than 1 in 2,000 people. However, with more than 7,000 individual rare diseases, their collective prevalence is about 1 in 17 of the general population. 50% of affected people are children, and for over 50% there is no cure or specific treatment.
In Birmingham, health services and science institutions have come together through the WMAHSN and Birmingham Health Partners to invest heavily in rare diseases translational research delivery. There will be an Open Day on 21 October to explore rare diseases and examine the support and research ongoing in the area.
12.30 - 1.30pm Lunch and registration
1.30pm Introduction and welcome: Professor Jeremy Kirk, Birmingham Health Partners
1.40pm Building translational acceleration programmes (TAPs) for research: Professor Charles Craddock
2.05pm Birmingham Life Sciences Strategy and hepatology research: Professor Gideon Hirschfield.
2.30pm NIHR Infrastructure for rare diseases and progression from drug target to repurposed therapy: Professor Tim Barrett
3.20pm Genetics in Birmingham - Regional laboratory service, clinical service and the Genomics Medicine Centre: Dr Jenny Morton, Consultant in Medical Genetics, Birmingham Women’s Hospital
3.45pm Centre for Rare Diseases at University Hospitals Birmingham NHS Foundation Trust – delivery of multidisciplinary rare disease clinics: Dr Tarek Hiwot
4.10pm Birmingham Children’s Hospital Rare Disease Centre – a world first for holistic rare diseases care: Dr Larissa Kerecuk
4.30pm From first in man to adoption in clinic: case study of enzyme replacement therapy in Morquio syndrome: Dr Sai Santra and Tarek Hiwot
4.55pm Summing up and close: Prof Jeremy Kirk.
To reserve your place, please email firstname.lastname@example.org.