Skip to main content

SWAN (Syndrome Without A Name) Clinic


The UK's first clinic looking at shortening the 'diagnostic odyssey' of those with undiagnosed rare diseases across Wales. 


Rare diseases are a significant health problem with associated poor outcomes.  Rare diseases affect 1 in 2000 or fewer patients. The time in reaching a diagnosis for certain patients is considerable.  The nature of services for patients with rare diseases is changing rapidly.  There are major advances in testing, particularly genetic testing, which means that the “Diagnostic Odyssey” could for many patients be shortened considerably in whom a diagnosis has not yet been possible to make.

We have been fortunate to secure the funding for a 2-year pilot programme from Welsh Government which is to be commissioned through Welsh Health Specialist Services Committee.  They have requested that Cardiff & Vale University Health Board should establish a Syndrome Without a Name Clinic (SWAN) and evaluate the clinical effectiveness of this project with regard to ultimately shortening the diagnostic odyssey for patients with rare diseases.

We are currently accepting paediatric and adult referrals about patients from consultant level colleagues, where the patient has the involvement of two or more systems and are suspected of having a unifying underlying diagnosis. They may have congenital malformations or dysmorphism suggestive of an underlying monogenic disorder. It is expected that reasonable investigation without identifying a diagnosis has previously been carried out.

This clinic does not take over the clinical care of the patient, that remains with the referring Consultant.

SWAN clinics

Our SWAN clinic services are primarily based in the outpatient departments at both University Hospital of Wales and Noah's Ark Children's Hospital for Wales.

If you are accepted into the SWAN Clinic you will receive telephone call(s) from the clinical nurse specialists, genetic counsellors or the clinical fellows. They will discuss your referral, what you hope to get from the clinic, how the clinic works, and signposting to relevant services/support that you may not be aware of, to help with both your medical and non-medical unmet needs. 


Who will I see?

The SWAN Clinic is a multi-disciplinary team, comprised of many specialists with in interest in Rare Diseases, including but not limited to, genetics, immunology and paediatrics

  • Professor Stephen Jolles
    Consultant Clinical Immunologist, Adult Lead for SWAN Clinic

  • Dr Jennifer Evans
    Consultant Paediatrician, Paediatric Lead for SWAN Clinic

  • Dr Ian Tully
    Consultant Geneticist, Adult Genetic Lead for SWAN Clinic

  • Dr Jennifer Gardner
    Consultant Geneticist, Paediatric Genetic Lead for SWAN Clinic

Who else will I see?

The SWAN Clinic also includes clinical nurse specialists, medical fellows and a genetic counsellor.

  • Zoe Morrison
    Paediatric SWAN Clinical Nurse Specialist

  • Dr Matthew Spencer
    Paediatric Medical Clinical Fellow

  • Siân Williams
    Adult SWAN Clinical Nurse Specialist

  • Dr Aung Saw
    Adult Medical Clinical Fellow

  • Flora Joseph
    Genetic Counsellor

Other members of the team

  • Dr Graham Shortland OBE
    Consultant Paediatrician / SWAN Lead

  • Dr Mark Ponsford
    Specialist Registrar in Immunology

  • Emily Carne
    Consultant Nurse in Immunology

  • Hywel Williams

  • Angharad Williams
    Clinical Scientist

  • Siân Corrin
    Clinical Scientist

Contact us

Should you wish to send a referral in to the SWAN Clinic, please mark them as "SWAN Referral" and send them to:

Follow us: