Congenital anomalies and rare diseases
The European commission describes a rare disease as a “Life-threatening or chronically debilitating disease – mostly inherited…affecting fewer than 5 people in 10,000”.
More than 50% of rare diseases occur in children under the age of 5 years and 80% of these are congenital or hereditary. There are between 6,000 and 8,000 rare diseases that are known about. With advances in genetics research, information about more diseases is emerging all the time.
The congenital anomaly register and information service (CARIS)
The CARIS registry aims to provide reliable data on congenital anomalies and rare diseases in Wales which can be used to assess patterns of disease, including possible clusters and their causes and to inform the work of health services, including antenatal screening.
Registries such as CARIS contribute to better health outcomes and more efficient health systems by tracking the incidence and prevalence of diseases. By collecting detailed patient data, registries can enhance the quality of care through better diagnosis, treatment, and follow-up. They provide valuable data for medical research, helping to identify risk factors, evaluate treatments, and develop new therapies. They also assist in the efficient allocation of healthcare resources by identifying high-risk populations and areas needing intervention.
CARIS data supports the planning and implementation of public health initiatives by providing accurate data on health trends and outcomes.
The adult rare disease register (ARD)
The main purpose of the adult rare disease register is to collate high quality data on rare diseases in one place. The data may then be used by the government, healthcare staff, charity organisations and the public to help improve the services available for patients with rare diseases.
The scope of the register continues to expand to help meet the needs of both the rare disease community and the health service in Wales.
The register fulfils a recognised need as set out in The UK Rare Diseases Framework on the GOV.UK website (external site, link opens in new tab.)
The work of the register is steered by the Wales Rare Disease Implementation Network (RDIN) (external site, link opens in new tab).
Further information
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