Mendelian Ltd

40,000 people in the UK (c.200,000 in the US) are affected by a neuroendocrine tumour (NET). NETs are rare cancers that are hard to detect, and are often mistaken for other conditions. As a result patients face significant delays in reaching a diagnosis (median \>4 years from symptomatic onset). Late diagnosis affects patient prognosis (survival rate), co...

Individually, rare diseases impact small numbers of people. Collectively, they impact 1 in 17 people and are a public health priority. A significant portion of rare diseases are, by their nature, difficult to diagnose. Non-specific symptoms may present slowly over time as the diseases impact multiple organ systems leading to repeated mis-diagnoses. Averag...

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"**VISION:** The diagnosis of rare disease is complex, challenging and costly - with missed and misdiagnosis having a significant health and economic consequences for both patients and the NHS. We intend to redress this and make diagnosis easy, quick and most importantly accurate - overcoming some the key technical and clinical issues associated with the ...

Unfortunately, a lot of the information we need is stored online in complex and unorganised databases. Understanding DNA's mutations is difficult and only an external expert with deep knowledge and experience in the field could help us make sense of them and their phenotypic importance (i.e which ones to keep vs ones to discard). Moreover, the field being...