A Centre of Excellent for Rare Disease

A rare disease is defined as a condition which affects fewer than 1 in 2000 people. Over 7,000 rare diseases have been discovered , affecting both young and old people and all ethnic groups. A rare disease can affect any body system , with many rare diseases causing multiple health problems or birth defects and other symptoms such as learning or behaviour problems. Rare diseases may have many causes with many having a genetic basis. Diagnosing rare diseases may be difficult, however, especially if healthcare professionals have little experience with the disorder in question.

Individuals with rare diseases and their parents usually have many questions including “What is the diagnosis? Can it be treated or cured? What caused it? Where can I find more information?”. Doctors looking after rare disease patients have questions, too. They want to know how to investigate and treat the disorder and what information they can give to parents. Our work in Manchester Centre for Genomic Medicine is focussed on answering all of these questions. As experts in rare diseases we also see many patients from outside our region and some from overseas. This has helped us to build up a comprehensive picture of how a rare disease can affect someone throughout life, information which we can then pass on to patients. We accept referrals from GPs, other doctors involved in a patient’s care and some other health professionals.

In order to provide the best care for rare disease patients we work with colleagues in different specialties to guide management and healthcare according to the best evidence that exists from research and published literature. One way in which we do this is through our multidisciplinary Rare Disease Clinics. We have established clinics for Tuberous Sclerosis, CHARGE syndrome, Angelman Syndrome, Rett Syndrome, Neurofibromatosis, Kabuki Syndrome and other Chromatin Disorders. We also run specialist clinics for patients with rare eye diseases, genetic kidney problems and skeletal dysplasias. In many of these clinics we work with patient support groups and parents to ensure we are meeting the needs of patients and offering services that they find useful. We have regular clinics and case review meetings for patients with rare undiagnosed disorders, and can offer a number of different diagnostic tests, including Gene Panel Tests and Clinical Exome Sequencing. We regularly meet with specialists from the UK and overseas to share expertise and opinions, providing the best chance of diagnosis for our patients.

European Reference Network

Manchester Centre For Genomic Medicine is currently leading a prestigious European Reference Network, ERN-ITHACA For Rare Congenital Malformations and Intellectual Disability. We are also partners in several other European Rare Disease Networks, including those for rare metabolic disorders (METABERN), rare tumour predisposition syndromes (ERN-GENTURIS) and rare eye disorders (ERN-EYE). These networks link together many expert centres throughout Europe with the aim of sharing best practice, working together on rare disease guidelines, enhancing training in rare diseases and fostering collaborative research. Most importantly, the ERNs will work in partnership with parents so that their efforts can be directed at the topics which really matter to rare disease families.

Rare disease research

We are active researchers in the field of rare diseases and publish over a 100 papers each year from our department in reputable medical journals. Our department is currently leading on or participating in over 30 rare disease research studies, ranging from simple questionnaire studies to clinical treatment trials. Many patients attending our clinics will have the opportunity to participate in research studies or to help us design new ones. Every two years we invite top international researchers to Manchester for our Manchester Dysmorphology Conference where some of the latest research studies into rare disorders are presented.

Rare Disease Education

We undertake a number of training activities to teach others about rare diseases. These include teaching sessions for our local healthcare professionals, and on the Manchester MSc for Genomic Medicine, a course which was specifically set up to educate healthcare professionals about all the recent advances which have taken place in our field, so that they will be able to use new genomic technologies and expertise to improve diagnosis and patient care. Every two years our department hosts the Manchester Rare Disease Conference, an international meeting attended by over 150 experts in rare diseases which specifically focusses on presentation of high quality rare disease research.

Manchester Centre for Genomic Medicine

Quick Links

NEWS & EVENTS

A Centre of Excellent for Rare Disease

European Reference Network

Rare disease research

Rare Disease Education