For 80% of rare diseases there is no cure or specific treatment and a lack of understanding of these disorders can lead to delayed diagnosis and in some cases effective treatments may not be readily accessible. However, most rare diseases are inherited and advances in genetic technologies have enabled us to identify rare disease genes that allow early accurate diagnosis and can provide a basis for understanding gene function and developing novel approaches to therapy.
Here in Birmingham we are uniquely positioned to combine clinical expertise in several cohorts of patients with rare disease, together with genetics and precision medicine embedded in our research groups. This makes Birmingham a ‘one stop shop’ for delivery of translational research in rare diseases.
We aim to continue expanding our knowledge and translating our world class research into a better outlook for families with rare diseases. In addition to representing an important cause of ill health, there are many examples of how understanding the causes of rare diseases has provided fundamental insights into basic biological processes and the causes of more common diseases.
We also wish to give the next generation of scientists and clinicians the opportunity to pursue a career in rare disease research, providing novel insights that will benefit many.