Mendelian provides early disease identification services for healthcare providers, focusing on rare diseases.

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. 

Innovate UK

NHS England

Google for Startups

Pitch@Palace

Mendelian  is excited to part of Health Innovation Oxford & Thames Valley “Power of Digital Health Partnerships” event today. To hear more about our great work with our NHS partners come and talk to us at our stand!

#DigitalHealthOx #raredisease #rarediseases #diagnosticodyssey

🚨 Exciting News! The rare disease community just submitted a sign-on letter to Congress, with 100+ patient orgs and advocates touting the establishment of an FDA Rare Disease Center of Excellence in the 2025 approps bill. 

This center aims to streamline the regulatory process for rare disease therapies, bringing hope to millions affected by rare diseases. 🧬💪

Read the full letter and learn more about this initiative here: https://bit.ly/RDCOE

#RareDisease #Advocacy #Healthcare #FDA #Congress #budget

Our team have authored a few great articles this year already:

⋅ Lost in the System: The Labyrinth of Rare Disease Diagnosis - EMJ - https://lnkd.in/ge9Bimuy - Peter Fish

⋅ The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study - Journal of Clinical Endocrinology & Metabolism - https://lnkd.in/g4Vib3T2 - Nadine Sawoky - Kyowa Kirin International plc. #xlh

⋅Identifying patients with undiagnosed small intestinal neuroendocrine tumours in primary care using statistical and machine learning: model development and validation study - British Journal of Cancer - https://lnkd.in/gUA6XTjx - Innovate UK #neuroendocrinetumours #NETs

⋅ A Machine Learning Algorithm for the Detection of Paroxysmal Nocturnal Haemoglobinuria (PNH) in UK Primary Care Electronic Health Records (preprint) - BMC Primary Care - https://lnkd.in/gAYKRV7D #pnh

#raredisease #rarediseases #diagnosticodyssey

Deborah Richards' piece in the Guardian Rare Disease supplement underscores the importance of leveraging technology and working collaboratively to create the environment for widespread change.

We are proud to collaborate with Alexion Pharmaceuticals, Inc. to help drive earlier diagnosis of #rarediseases through AI-powered technology.

In the UK alone, every day, 9 children are born with a rare, treatable genetic condition. 

In a world-leading research project, Genomics England will be testing 100,000 new born babies for 223 different #rarediseases. Such a valuable step for the future of healthcare!

Thank you for the support Optimum Patient Care and the vital service OPCRD provides!

CO:MENDELIAN

Mendelian

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