About us

The University of Birmingham’s Centre for Rare Disease Studies (CRDS) has two fundamental aims:

  • To develop a national integrated multi-speciality, multidisciplinary centre of excellence for disseminating information on clinical services, teaching and research into rare diseases;
  • To support basic and applied research in order to understand the molecular causes of rare diseases and so provide a basis for improving the diagnosis, clinical management and treatment of these disorders.

The University of Birmingham has international expertise in rare diseases, which are detailed in our research and publications. However, because of the diverse nature of these disorders, this expertise is distributed across many Institutes and Colleges. Therefore, our Centre provides a focus point for rare disease research, enabling better use of resources and a more coordinated approach.

As well as providing a focus for interdisciplinary academic research and teaching we promote engagement in conversations with patient groups, business leaders in the pharmaceutical industry, social entrepreneurs in the field of health, and healthcare policy experts, in order to provide fresh opportunities for rethinking ways to treat rare disease patients better and faster. Our ambitions reflect our location in the international city of Birmingham and the tradition of academic enquiry at the University of Birmingham. 

Our objectives

  1. Community engagement – We encourage public engagement through outreach events in partnership with patient support groups, charities working in the field of rare diseases, and community groups. We promote awareness and understanding about the everyday experiences of people living with rare diseases, among health professionals, researchers, and the public
  2. Connecting hospital and science institutes – We engage with clinical investigators looking after patients in rare disease services within our partner hospitals. Through this, we provide patients and their health care professionals with access to the latest developments in biomedical science; and patient priorities, data and resources that will inform the science agenda in Birmingham
  3. Teaching – We have launched a new MSc in Genomic Medicine, with a module on rare diseases. We also offer many exciting opportunities for postgraduate study (MSc, MRes and PhD) in a wide variety of rare disease research themes. The University of Birmingham has also recently been awarded Gold rating in the 2016/17 Teaching Excellence Framework (TEF). Student satisfaction with the quality of teaching and progression of graduates to highly skilled employment or further study were both commended as ‘outstanding’.
    Find out more about opportunities to study with us.
  4. Research – As researchers working at Birmingham we continue to pursue our individual research interests, but we also continue to work together to build a pipeline of translational research from gene discovery to getting new treatments to patients in the clinic. This will make our endeavour more than the sum of the parts. In working together, we hope to make a real difference to the rare disease patient community
  5. Interdisciplinarity – CRDS Birmingham brings together fields and disciplines from across the spectrum of arts, education, health services management and sciences to address the issues important to patients
  6. National connectivity – We have active links with researchers working in rare diseases in other institutions, in particular with comparable experts in Oxford, Cambridge and Edinburgh, as well as European and North American institutions, such as Washington University, St Louis. These links extend to providing opportunities for reciprocal intellectual exchange and visiting fellowships for faculty, postdoctoral researchers and doctoral researchers
  7. Working papers in rare disease studies – Rather than formulating a static agenda we are committed to continual reflection on our intellectual work, pedagogy and public engagement. To sustain this we aim to publish regular collaborative working papers on rare disease studies that are accessible to anyone interested in the field

Engagement

As well as providing a focus for interdisciplinary academic research and teaching we promote engagement in conversations with patient groups, business leaders in the pharmaceutical industry, social entrepreneurs in the field of health, and healthcare policy experts, in order to provide fresh opportunities for rethinking ways to treat rare disease patients better and faster. Our ambitions reflect our location in the international city of Birmingham and the tradition of academic enquiry at the University of Birmingham.

Along with public engagement events, such as exhibitions and lectures, our website is a forum; a platform to share our research and enable a more wide-ranging and inclusive conversation about developing treatments for rare diseases. We are also currently working on a series of collaborative papers, which set out what we see as the pressing questions and issues facing patients, clinicians and researchers in the rare diseases field today.

Partners

The University of Birmingham, University Hospitals Birmingham NHS Foundation Trust and the Birmingham Women’s and Children’s NHS Foundation Trust form a strategic alliance through the Birmingham Health Partners and support the research input to deliver highly organised ‘one-stop shop’ multidisciplinary clinics where patients (with their carers) may undergo pre-planned diagnostic tests and see all relevant specialists and the multi-disciplinary team at one visit at University Hospitals Birmingham NHS Foundation Trust as the hub of their care.

There are areas for patients to interact with each other, as well as with clinicians and researchers seeking to understand more about rare diseases in order to improve treatments. The purposefully-designed facilities provide patients with the opportunity to share experiences and be exposed to a research active environment (requirements that were recently identified as being important aspects of a centre of excellence by a survey conducted by Rare Disease UK).

This infrastructure also allows us to undertake ground-breaking translational research on the mechanisms underlying rare diseases, capitalising on our cross-cutting expertise in multiple areas of disease biology across the eight Institutes within the College. With unprecedented access to patient samples and clinical information, this Centre supports Birmingham to develop as a world-leading hub for the study of rare human diseases and their causes and treatment.

Where are we based?

We are based within the Institute of Translational Medicine, working alongside the team at Europe’s first Centre for Rare Disease (CfRD) at Birmingham’s Queen Elizabeth Hospital.

The University of Birmingham, Universiy Hospitals Birmingham NHS Foundation Trust and the Birmingham Women’s and Children’s NHS Foundation Trust form a strategic alliance through the Birmingham Health Partners, and support the research input to deliver highly organised ‘one-stop shop’ multidisciplinary clinics where patients (with their carers) may undergo pre-planned diagnostic tests and see all relevant specialists and the multi-disciplinary team at one visit at Universities Hospitals NHS Foundation Trust as the hub of their care.

There are areas for patients to interact with each other, as well as with clinicians and researchers seeking to understand more about rare diseases in order to improve treatments. The purposefully-designed facilities provide patients with the opportunity to share experiences and be exposed to a research active environment (requirements that were recently identified as being important aspects of a centre of excellence by a survey conducted by Rare Disease UK).

This infrastructure also allows us to undertake ground-breaking translational research on the mechanisms underlying rare diseases, capitalising on our cross-cutting expertise in multiple areas of disease biology across the eight Institutes within the College. With unprecedented access to patient samples and clinical information, this Centre supports Birmingham to develop as a world-leading hub for the study of rare human diseases and their causes and treatment.

Why Birmingham?

why-birmingham-accordion-banner-750x300For 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. 

Rare disease facts

  • A rare disease is defined as a condition that affects less than five in 10,000 of the general population
  • There are over 7,000 known rare diseases
  • A single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this; some will affect only a small handful
  • 1 in 17 people will be affected by a rare disease at some point in their life; this equates to around 3.5 million people in the UK
  • 75% of rare diseases affect children
  • 30% of rare disease patients will die before five years of age
  • 80% of rare diseases have a genetic component
  • Rare diseases can be single gene, multifactorial, chromosomal or non-genetic
  • Rare diseases are often chronic and life-threatening
  • Well-known rare diseases include cystic fibrosis, Huntington’s disease and retinitis pigmentosa, but there are many lesser-known conditions such as epidermolysis bullosa and lysosomal storage disorders. Rare diseases also include rare cancers and rare infectious diseases