Rare diseases information for professionals

We welcome referrals from GPs and other hospitals, please refer to individual specialist teams. If you are unsure who to refer to, please contact the on-call consultant available 24/7 through our switchboard (0121 333 9999) who will be able to discuss the case. For SWAN clinic referrals, please refer to Dr Jenny Morton at the Women’s Hospital - jenny.morton@nhs.net.

For Roald Dahl Rare Disease Nurses, please complete this form and e-mail it to bwc.raretogether@nhs.net

For general rare disease research queries and opportunities, please contact Dr Larissa Kerecuk via her secretary, Kerys Grainger, kerys.grainger@nhs.net.

For specific rare disease research, please contact our Research department.

For 100,000 Genomes Project, please contact Maria Kokocinska, Sharon Parkes, Jessica Kainth via e-mail: bwc.wmgmc@nhs.net.

Useful websites

• Rare Disease UK
• Genetic Alliance
• Undiagnosed
• NHS Specialised Services
• NHS Choices

European

• EURODIS (Rare Disease Europe)
• ORPHANET

North American

• https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/     
• National Institute of Health Office of Rare Disease Research