AWMGS support for International Rare Disease Day 2022
February 28th was a time to come together to raise awareness of the 300 million people living across the World affected by any of the 6000+ identified rare diseases, equivalent to 5% of the global population or the 3rd largest country in the world per capita.
Many of us may not be aware, 70% of rare genetic diseases start in childhood with 72% genetically inherited. Other rare diseases are considered to be the result of of infections (bacterial or viral), allergies and environmental causes or are rare cancers (of which there are an estimated over 200 varieties).
AWMGS recently caught up with Assistant Service Manager, Sharon Takata to hear first hand how rare disease has personally touched her family and influenced her career pathway to work in the field of genomics to give back and support other patients and families faced with similar experiences. |
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Trainee Clinical Scientist, Cara Thomas also shared some of the advancements in genetic testing services for patients living in Wales and the various wrap around therapeutic clinical support available. |
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Our partners, Genomics Partnership Wales also shared an interview with active member of the GPW Sounding Board and advocate of rare disease awareness, Louise Wilkinson whose baby Dafydd has Dopa-responsive dystonia, a neurological movement disorder characterised by continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements generally in the feet and legs. |
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