Genomics & Rare Diseases
Rare diseases are individually rare but collectively common, with 3.5 million people affected in the UK.
80% of rare diseases are genetic in origin and 70% of them start in childhood.
The National Genomic Test Directory for Rare and Inherited Disease sets out the genomic tests for rare diseases available on the NHS. (select the pdf document ‘Rare and inherited disease eligibility criteria’ to find out which genomic tests your patient is eligible for).
Learning more about rare disease is a healthcare priority set out in the UK Rare Diseases Framework.
Why is this important?
Want to learn more?
Genomics Education Programme Rare Disease Education Hub
How Genomics can help people with rare diseases
Medics 4 Rare Disease
A national charity supporting medical professionals to Think Rare
FutureLearn course
A Clinician’s Guide to Genomic Testing for Rare Disease
GeNotes
A knowledge hub for specific conditions
GeneReviews
International point-of-care resource for clinicians covering diagnosis, management and genetic counselling.
OMIM
A catalogue of genes and genetic disorders. Search your gene of interest to access information on the clinical synopses of conditions linked to the gene, and links to other educational resources.
MedlinePlus
Explore the symptoms, genetic cause, and inheritance pattern of various health conditions, with information presented in patient-friendly language
