Elena Marchini

Mendelian

At Mendelian, our mission is to make rare diseases our priority. We have an amazing team who have built software, which enables doctors to help patients earlier, by finding the undiagnosed. Did you know that rare diseases are not actually rare? More rare diseases are life-threatening condition that are collectively common. In fact, 1 in 17 of us will be affected by a rare disease in our lifetime. This is comparable to common diseases such as diabetes and asthma. Rare disease symptoms often develop gradually and in different organ systems. This means patients present to different doctors for seemingly independent reasons making these diseases difficult to diagnose. On average, rare disease patients experience 3 misdiagnoses, visit 5 different doctors and wait over 4 years before receiving a diagnosis in the UK. In the past decade, undiagnosed rare diseases have cost the NHS in excess of £3.4 billion.